PHKA1 (phosphorylase kinase regulatory subunit alpha 1) - Rat Genome Database

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Gene: PHKA1 (phosphorylase kinase regulatory subunit alpha 1) Homo sapiens
Analyze
Symbol: PHKA1
Name: phosphorylase kinase regulatory subunit alpha 1
RGD ID: 733215
HGNC Page HGNC:8925
Description: Predicted to enable phosphorylase kinase activity. Predicted to be involved in glycogen metabolic process. Predicted to be located in cytosol. Predicted to be part of phosphorylase kinase complex. Implicated in glycogen storage disease and glycogen storage disease IXd.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC132604; PHKA; phosphorylase b kinase alpha subunit; phosphorylase b kinase regulatory subunit alpha skeletal muscle isoform; phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform; phosphorylase kinase alpha M subunit; phosphorylase kinase, alpha 1 (muscle); phosphorylase kinase, alpha 1 (muscle), muscle glycogenosis
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: PHKA1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,578,814 - 72,714,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX72,578,814 - 72,714,319 (-)EnsemblGRCh38hg38GRCh38
GRCh37X71,798,664 - 71,934,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,717,203 - 71,850,612 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X71,583,501 - 71,716,903NCBI
CeleraX72,141,887 - 72,277,747 (-)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX65,553,170 - 65,688,660 (-)NCBIHuRef
CHM1_1X71,691,651 - 71,827,294 (-)NCBICHM1_1
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Brushia RJ and Walsh DA, Front Biosci. 1999 Sep 15;4:D618-41.
2. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Burwinkel B, etal., Eur J Hum Genet. 2003 Jul;11(7):516-26.
3. The content of glycogen phosphorylase and glycogen in preparations of sarcoplasmic reticulum-glycogenolytic complex is enhanced in diabetic rat skeletal muscle. Garduno E, etal., Diabetologia. 2001 Oct;44(10):1238-46.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. Phosphorylase a formation in protein-glycogen particles isolated from fast-twitch muscle of euthyroid and hypothyroid rats. Leijendekker WJ, etal., Arch Biochem Biophys 1989 Oct;274(1):120-9.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1872871   PMID:2108025   PMID:2757032   PMID:7705849   PMID:7874115   PMID:8226841   PMID:12477932   PMID:12876330   PMID:15489334   PMID:15637709   PMID:16344560   PMID:18029348  
PMID:18401027   PMID:20080404   PMID:21634085   PMID:21873635   PMID:22238410   PMID:22939629   PMID:23443559   PMID:23455922   PMID:25476789   PMID:26186194   PMID:26496610   PMID:27432908  
PMID:27880917   PMID:28380382   PMID:28514442   PMID:29395067   PMID:29507755   PMID:29778605   PMID:30572598   PMID:31091453   PMID:32235678   PMID:32296183   PMID:32707033   PMID:33187986  
PMID:33799212   PMID:33853758   PMID:33961781   PMID:34079125   PMID:35012549   PMID:35120648   PMID:35271311   PMID:35439318   PMID:35446349   PMID:35831314   PMID:36215168   PMID:36736316  


Genomics

Comparative Map Data
PHKA1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X72,578,814 - 72,714,306 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX72,578,814 - 72,714,319 (-)EnsemblGRCh38hg38GRCh38
GRCh37X71,798,664 - 71,934,154 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X71,717,203 - 71,850,612 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X71,583,501 - 71,716,903NCBI
CeleraX72,141,887 - 72,277,747 (-)NCBICelera
Cytogenetic MapXq13.1NCBI
HuRefX65,553,170 - 65,688,660 (-)NCBIHuRef
CHM1_1X71,691,651 - 71,827,294 (-)NCBICHM1_1
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBIT2T-CHM13v2.0
Phka1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X101,557,581 - 101,687,907 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX101,557,581 - 101,687,852 (-)EnsemblGRCm39 Ensembl
GRCm38X102,513,975 - 102,644,301 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX102,513,975 - 102,644,246 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X99,709,314 - 99,839,585 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X98,718,393 - 98,846,917 (-)NCBIMGSCv36mm8
CeleraX89,425,232 - 89,555,150 (-)NCBICelera
Cytogenetic MapXDNCBI
cM MapX45.47NCBI
Phka1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X67,601,302 - 67,738,504 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX67,601,302 - 67,738,455 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX69,084,656 - 69,221,526 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X72,584,887 - 72,721,763 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X70,146,037 - 70,282,911 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X72,377,020 - 72,515,385 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX72,377,021 - 72,515,366 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X73,218,886 - 73,356,004 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X90,553,527 - 90,692,073 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1X90,626,959 - 90,765,506 (-)NCBI
CeleraX67,954,686 - 68,091,557 (-)NCBICelera
Cytogenetic MapXq22NCBI
Phka1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495547512,020,629 - 12,172,443 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495547512,020,278 - 12,172,427 (-)NCBIChiLan1.0ChiLan1.0
PHKA1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1X72,258,746 - 72,389,672 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X61,816,613 - 61,949,179 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X71,900,762 - 72,033,055 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX71,900,762 - 72,033,055 (-)Ensemblpanpan1.1panPan2
PHKA1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X56,579,538 - 56,758,293 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX56,581,435 - 56,757,905 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX47,405,712 - 47,585,405 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X57,633,970 - 57,778,843 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX57,633,970 - 57,778,287 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X55,549,695 - 55,732,132 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X56,945,562 - 57,125,410 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X56,794,558 - 56,974,936 (-)NCBIUU_Cfam_GSD_1.0
Phka1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X45,213,224 - 45,321,344 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367621,657,781 - 1,766,605 (-)EnsemblSpeTri2.0
SpeTri2.0NW_0049367621,657,778 - 1,766,592 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PHKA1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX58,455,939 - 58,583,216 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X58,456,097 - 58,583,216 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X66,182,346 - 66,288,186 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PHKA1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X62,397,726 - 62,528,695 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX62,397,739 - 62,528,708 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660654,273,916 - 4,405,596 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Phka1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249032,857,378 - 3,068,534 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249032,859,252 - 3,068,516 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PHKA1
382 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002637.4(PHKA1):c.2606+1G>A single nucleotide variant Glycogen phosphorylase kinase deficiency [RCV003317255]|not provided [RCV000519324] ChrX:72609623 [GRCh38]
ChrX:71829473 [GRCh37]
ChrX:Xq13.1		 pathogenic|likely pathogenic
NM_002637.4(PHKA1):c.3297+5G>A single nucleotide variant Glycogen storage disease IXd [RCV002525147]|not provided [RCV000520913] ChrX:72584244 [GRCh38]
ChrX:71804094 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3498+1G>C single nucleotide variant Glycogen storage disease IXd [RCV000010602] ChrX:72582397 [GRCh38]
ChrX:71802247 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.695del (p.Ala232fs) deletion Glycogen storage disease IXd [RCV000010604] ChrX:72667397 [GRCh38]
ChrX:71887247 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2 copy number gain See cases [RCV000052416] ChrX:67621041..76868590 [GRCh38]
ChrX:66840883..76009501 [GRCh37]
ChrX:66757608..76005403 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2 copy number gain See cases [RCV000052417] ChrX:68382004..75243150 [GRCh38]
ChrX:67601846..74462985 [GRCh37]
ChrX:67518571..74379710 [NCBI36]
ChrX:Xq12-13.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1 copy number loss See cases [RCV000053005] ChrX:675360..100368517 [GRCh38]
ChrX:636095..99623515 [GRCh37]
ChrX:556095..99510171 [NCBI36]
ChrX:Xp22.33-q22.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.3(PHKA1):c.3516T>G (p.Asp1172Glu) single nucleotide variant Malignant melanoma [RCV000073246] ChrX:72581158 [GRCh38]
ChrX:71801008 [GRCh37]
ChrX:71717733 [NCBI36]
ChrX:Xq13.1		 not provided
NM_002637.3(PHKA1):c.2547C>T (p.Ser849=) single nucleotide variant Malignant melanoma [RCV000073247] ChrX:72609683 [GRCh38]
ChrX:71829533 [GRCh37]
ChrX:71746258 [NCBI36]
ChrX:Xq13.1		 not provided
NM_002637.3(PHKA1):c.388T>G (p.Trp130Gly) single nucleotide variant Malignant melanoma [RCV000063973] ChrX:72695774 [GRCh38]
ChrX:71915624 [GRCh37]
ChrX:71832349 [NCBI36]
ChrX:Xq13.1		 not provided
NM_002637.4(PHKA1):c.79A>C (p.Asn27His) single nucleotide variant not provided [RCV000122501] ChrX:72712937 [GRCh38]
ChrX:71932779 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.2405G>A (p.Arg802Gln) single nucleotide variant Glycogen storage disease IXd [RCV002514084]|Spinocerebellar ataxia, X-linked [RCV000190543] ChrX:72611149 [GRCh38]
ChrX:71830999 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-21.1(chrX:62712219-78605009)x3 copy number gain See cases [RCV000134569] ChrX:62712219..78605009 [GRCh38]
ChrX:61931689..77860506 [GRCh37]
ChrX:61848414..77747162 [NCBI36]
ChrX:Xq11.1-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic|likely pathogenic|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1 copy number loss See cases [RCV000135306] ChrX:53985575..92203108 [GRCh38]
ChrX:54012008..91458107 [GRCh37]
ChrX:54028733..91344763 [NCBI36]
ChrX:Xp11.22-q21.31		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3 copy number gain See cases [RCV000137137] ChrX:10679..76420505 [GRCh38]
ChrX:60679..75640898 [GRCh37]
ChrX:679..75557302 [NCBI36]
ChrX:Xp22.33-q13.3		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 copy number loss See cases [RCV000137414] ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 copy number loss See cases [RCV000137886] ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3		 pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3		 pathogenic
GRCh38/hg38 Xq13.1(chrX:72351800-72942215)x3 copy number gain See cases [RCV000138332] ChrX:72351800..72942215 [GRCh38]
ChrX:71488375..72078779 [NCBI36]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3334G>T (p.Glu1112Ter) single nucleotide variant Glycogen storage disease IXd [RCV000010601] ChrX:72582562 [GRCh38]
ChrX:71802412 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.896A>T (p.Asp299Val) single nucleotide variant Glycogen storage disease IXd [RCV000010603] ChrX:72657610 [GRCh38]
ChrX:71877460 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.667G>A (p.Gly223Arg) single nucleotide variant Glycogen storage disease IXd [RCV000010605] ChrX:72667425 [GRCh38]
ChrX:71887275 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1 copy number loss See cases [RCV000139352] ChrX:10701..88318651 [GRCh38]
ChrX:60701..87573652 [GRCh37]
ChrX:701..87460308 [NCBI36]
ChrX:Xp22.33-q21.31		 pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28		 pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic|conflicting data from submitters
GRCh38/hg38 Xq13.1(chrX:72677759-72711903)x3 copy number gain See cases [RCV000141925] ChrX:72677759..72711903 [GRCh38]
ChrX:71897609..71931745 [GRCh37]
ChrX:71814334..71848470 [NCBI36]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) copy number loss See cases [RCV000141742] ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24		 pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3 copy number gain See cases [RCV000142336] ChrX:66445907..78172208 [GRCh38]
ChrX:65665749..77427705 [GRCh37]
ChrX:65582474..77314361 [NCBI36]
ChrX:Xq12-21.1		 pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 copy number gain See cases [RCV000142134] ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp11.21-q13.3(chrX:56431359-76557419)x1 copy number loss See cases [RCV000143131] ChrX:56431359..76557419 [GRCh38]
ChrX:56457792..75777827 [GRCh37]
ChrX:56474517..75694231 [NCBI36]
ChrX:Xp11.21-q13.3		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
Single allele deletion Intestinal malrotation [RCV000754989] ChrX:71728056..72215882 [GRCh37]
ChrX:Xq13.1-13.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_002637.4(PHKA1):c.3144T>C (p.Asp1048=) single nucleotide variant Glycogen storage disease IXd [RCV002529454]|not specified [RCV000600277] ChrX:72593203 [GRCh38]
ChrX:71813053 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3 copy number gain See cases [RCV000240019] ChrX:44734936..79676121 [GRCh37]
ChrX:Xp11.3-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.538-25T>C single nucleotide variant not provided [RCV000675444]|not specified [RCV000249114] ChrX:72676175 [GRCh38]
ChrX:71896025 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.429C>T (p.Leu143=) single nucleotide variant Glycogen storage disease IXd [RCV000538439]|not provided [RCV000675445]|not specified [RCV000244571] ChrX:72695733 [GRCh38]
ChrX:71915583 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.1324+15dup duplication not specified [RCV000244678] ChrX:72650374..72650375 [GRCh38]
ChrX:71870224..71870225 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1794-13_1794-11del microsatellite not specified [RCV000249616] ChrX:72623286..72623288 [GRCh38]
ChrX:71843136..71843138 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.2462G>A (p.Arg821His) single nucleotide variant Glycogen storage disease IXd [RCV000973904]|not provided [RCV001572675]|not specified [RCV000252565] ChrX:72611092 [GRCh38]
ChrX:71830942 [GRCh37]
ChrX:Xq13.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002637.4(PHKA1):c.3501A>G (p.Lys1167=) single nucleotide variant Glycogen storage disease IXd [RCV001443194]|not provided [RCV000487604] ChrX:72581173 [GRCh38]
ChrX:71801023 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=) single nucleotide variant Glycogen storage disease IXd [RCV000290849] ChrX:72582461 [GRCh38]
ChrX:71802311 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*1241GT[13] microsatellite Glycogen phosphorylase kinase deficiency [RCV000276452] ChrX:72579737..72579738 [GRCh38]
ChrX:71799587..71799588 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.*553C>T single nucleotide variant Glycogen storage disease IXd [RCV000260266] ChrX:72580449 [GRCh38]
ChrX:71800299 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*1303T>C single nucleotide variant Glycogen storage disease IXd [RCV000307114] ChrX:72579699 [GRCh38]
ChrX:71799549 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.718-12C>A single nucleotide variant Glycogen storage disease IXd [RCV000355348] ChrX:72666309 [GRCh38]
ChrX:71886159 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*1241GT[14] microsatellite Glycogen phosphorylase kinase deficiency [RCV000312819] ChrX:72579737..72579738 [GRCh38]
ChrX:71799587..71799588 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*467T>C single nucleotide variant Glycogen storage disease IXd [RCV000324843] ChrX:72580535 [GRCh38]
ChrX:71800385 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*1241GT[11] microsatellite Glycogen phosphorylase kinase deficiency [RCV000367455] ChrX:72579738..72579739 [GRCh38]
ChrX:71799588..71799589 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*674A>C single nucleotide variant Glycogen storage disease IXd [RCV000318514] ChrX:72580328 [GRCh38]
ChrX:71800178 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn) single nucleotide variant Glycogen storage disease IXd [RCV000349413]|not provided [RCV000955056] ChrX:72652648 [GRCh38]
ChrX:71872498 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*625CT[2] microsatellite Glycogen phosphorylase kinase deficiency [RCV000373186] ChrX:72580372..72580373 [GRCh38]
ChrX:71800222..71800223 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val) single nucleotide variant Glycogen storage disease IXd [RCV000891327]|not provided [RCV001573829]|not specified [RCV000435455] ChrX:72581151 [GRCh38]
ChrX:71801001 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*1275A>G single nucleotide variant Glycogen storage disease IXd [RCV000371182] ChrX:72579727 [GRCh38]
ChrX:71799577 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=) single nucleotide variant Glycogen storage disease IXd [RCV000285054] ChrX:72581005 [GRCh38]
ChrX:71800855 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*231A>T single nucleotide variant Glycogen storage disease IXd [RCV000379478] ChrX:72580771 [GRCh38]
ChrX:71800621 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr) single nucleotide variant Glycogen storage disease IXd [RCV000385052]|Inborn genetic diseases [RCV002523835] ChrX:72581163 [GRCh38]
ChrX:71801013 [GRCh37]
ChrX:Xq13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.2112C>T (p.Thr704=) single nucleotide variant Glycogen storage disease IXd [RCV000294621] ChrX:72620750 [GRCh38]
ChrX:71840600 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn) single nucleotide variant Glycogen storage disease IXd [RCV000297113]|not specified [RCV000608871] ChrX:72684557 [GRCh38]
ChrX:71904407 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.*1865G>T single nucleotide variant Glycogen storage disease IXd [RCV000398899] ChrX:72579137 [GRCh38]
ChrX:71798987 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys) single nucleotide variant Glycogen storage disease IXd [RCV000400946]|not provided [RCV000521791] ChrX:72657638 [GRCh38]
ChrX:71877488 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.*1151C>T single nucleotide variant Glycogen storage disease IXd [RCV000263435] ChrX:72579851 [GRCh38]
ChrX:71799701 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.864+11A>G single nucleotide variant Glycogen storage disease IXd [RCV000300546]|not specified [RCV000440279] ChrX:72666140 [GRCh38]
ChrX:71885990 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) single nucleotide variant Glycogen storage disease IXd [RCV000990869]|not specified [RCV003317201] ChrX:72582532 [GRCh38]
ChrX:71802382 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.492C>T (p.Phe164=) single nucleotide variant Glycogen storage disease IXd [RCV000970749]|not specified [RCV000614736] ChrX:72684543 [GRCh38]
ChrX:71904393 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.-229G>A single nucleotide variant Glycogen storage disease IXd [RCV000268273] ChrX:72714109 [GRCh38]
ChrX:71933957 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2060A>T (p.Asp687Val) single nucleotide variant not provided [RCV000523690] ChrX:72620802 [GRCh38]
ChrX:71840652 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25		 uncertain significance
NM_002637.4(PHKA1):c.1658G>A (p.Arg553His) single nucleotide variant not specified [RCV000606782] ChrX:72635211 [GRCh38]
ChrX:71855061 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2526+5T>C single nucleotide variant not provided [RCV000598840] ChrX:72611023 [GRCh38]
ChrX:71830873 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.919-1G>C single nucleotide variant not specified [RCV000599205] ChrX:72656243 [GRCh38]
ChrX:71876093 [GRCh37]
ChrX:Xq13.1		 uncertain significance
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
NM_002637.4(PHKA1):c.2815+17C>G single nucleotide variant not provided [RCV000599330] ChrX:72605254 [GRCh38]
ChrX:71825104 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln) single nucleotide variant Glycogen storage disease IXd [RCV001169832] ChrX:72603124 [GRCh38]
ChrX:71822974 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2370-14C>T single nucleotide variant Glycogen storage disease IXd [RCV001169835] ChrX:72611198 [GRCh38]
ChrX:71831048 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3073-35C>T single nucleotide variant not provided [RCV001545985] ChrX:72593309 [GRCh38]
ChrX:71813159 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3631G>A (p.Val1211Met) single nucleotide variant Glycogen storage disease IXd [RCV000525687] ChrX:72581043 [GRCh38]
ChrX:71800893 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.2(chrX:71881963-71960819)x3 copy number gain See cases [RCV000449124] ChrX:71881963..71960819 [GRCh37]
ChrX:Xq13.2		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.1272T>A (p.Asp424Glu) single nucleotide variant Peripheral neuropathy [RCV000449596] ChrX:72650442 [GRCh38]
ChrX:71870292 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq13.1-21.1(chrX:71316395-84337550)x3 copy number gain See cases [RCV000447565] ChrX:71316395..84337550 [GRCh37]
ChrX:Xq13.1-21.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71566947-72016381)x2 copy number gain See cases [RCV000446417] ChrX:71566947..72016381 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.3043C>T (p.Arg1015Cys) single nucleotide variant Glycogen storage disease IXd [RCV001861570]|not provided [RCV000675443]|not specified [RCV000427839] ChrX:72602020 [GRCh38]
ChrX:71821870 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.3540C>T (p.Pro1180=) single nucleotide variant not specified [RCV000441925] ChrX:72581134 [GRCh38]
ChrX:71800984 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2335C>A (p.Gln779Lys) single nucleotide variant Glycogen storage disease IXd [RCV002522721]|not provided [RCV000438434] ChrX:72618744 [GRCh38]
ChrX:71838594 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2637G>A (p.Leu879=) single nucleotide variant not specified [RCV000442021] ChrX:72605589 [GRCh38]
ChrX:71825439 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.1140C>T (p.Val380=) single nucleotide variant not specified [RCV000421449] ChrX:72652649 [GRCh38]
ChrX:71872499 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2137+12C>T single nucleotide variant not specified [RCV000439605] ChrX:72620713 [GRCh38]
ChrX:71840563 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1938T>C (p.Asn646=) single nucleotide variant not specified [RCV000422412] ChrX:72623131 [GRCh38]
ChrX:71842981 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1383C>T (p.Tyr461=) single nucleotide variant not specified [RCV000430024] ChrX:72644438 [GRCh38]
ChrX:71864288 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp) single nucleotide variant Glycogen storage disease IXd [RCV001063550]|not provided [RCV000436785] ChrX:72619264 [GRCh38]
ChrX:71839114 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.1079T>C (p.Ile360Thr) single nucleotide variant not provided [RCV000423389] ChrX:72653493 [GRCh38]
ChrX:71873343 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.2092G>A (p.Asp698Asn) single nucleotide variant Glycogen storage disease IXd [RCV001865479]|not provided [RCV000480829] ChrX:72620770 [GRCh38]
ChrX:71840620 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2685+8_2685+10del microsatellite Glycogen storage disease IXd [RCV002063756]|not specified [RCV000485899] ChrX:72605531..72605533 [GRCh38]
ChrX:71825381..71825383 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1715-2A>T single nucleotide variant not provided [RCV000486741] ChrX:72627051 [GRCh38]
ChrX:71846901 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.3443T>G (p.Ile1148Ser) single nucleotide variant Glycogen storage disease IXd [RCV000702439]|not provided [RCV000497509] ChrX:72582453 [GRCh38]
ChrX:71802303 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 copy number loss See cases [RCV000510419] ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1 copy number loss See cases [RCV000512026] ChrX:37521774..98488534 [GRCh37]
ChrX:Xp21.1-q22.1		 pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28		 pathogenic|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
GRCh37/hg19 Xq13.2(chrX:71893554-71955978)x3 copy number gain See cases [RCV000510728] ChrX:71893554..71955978 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NM_002637.4(PHKA1):c.2230-20C>T single nucleotide variant not specified [RCV000605497] ChrX:72618869 [GRCh38]
ChrX:71838719 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2726C>T (p.Pro909Leu) single nucleotide variant Inborn genetic diseases [RCV003285840] ChrX:72605360 [GRCh38]
ChrX:71825210 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2147T>C (p.Met716Thr) single nucleotide variant not provided [RCV003313589] ChrX:72619296 [GRCh38]
ChrX:71839146 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2606+11C>T single nucleotide variant not specified [RCV000612829] ChrX:72609613 [GRCh38]
ChrX:71829463 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1459+6_1459+8del deletion Glycogen storage disease IXd [RCV001228110]|not specified [RCV000615635] ChrX:72644354..72644356 [GRCh38]
ChrX:71864204..71864206 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.1137+12A>G single nucleotide variant Glycogen storage disease IXd [RCV002529674]|not specified [RCV000615897] ChrX:72653423 [GRCh38]
ChrX:71873273 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1407C>T (p.Tyr469=) single nucleotide variant not specified [RCV000607906] ChrX:72644414 [GRCh38]
ChrX:71864264 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2433C>T (p.Thr811=) single nucleotide variant Glycogen storage disease IXd [RCV000896209]|not specified [RCV000610851] ChrX:72611121 [GRCh38]
ChrX:71830971 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1727C>A (p.Thr576Lys) single nucleotide variant Glycogen storage disease IXd [RCV001350766]|not specified [RCV000616923] ChrX:72627037 [GRCh38]
ChrX:71846887 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.2370-19C>T single nucleotide variant Glycogen storage disease IXd [RCV002528694]|not specified [RCV000608806] ChrX:72611203 [GRCh38]
ChrX:71831053 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.538-20T>C single nucleotide variant not specified [RCV000611958] ChrX:72676170 [GRCh38]
ChrX:71896020 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.430T>G (p.Phe144Val) single nucleotide variant Glycogen storage disease IXd [RCV001448448]|not specified [RCV000605257] ChrX:72695732 [GRCh38]
ChrX:71915582 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686) copy number loss See cases [RCV000512142] ChrX:168546..74549686 [GRCh37]
ChrX:Xp22.33-q13.3		 pathogenic
NM_002637.4(PHKA1):c.2918-4A>G single nucleotide variant Glycogen storage disease IXd [RCV002529637]|not provided [RCV001718920] ChrX:72602277 [GRCh38]
ChrX:71822127 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_002637.4(PHKA1):c.5G>A (p.Arg2Lys) single nucleotide variant not provided [RCV000675446] ChrX:72713876 [GRCh38]
ChrX:71933724 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.-8G>A single nucleotide variant not provided [RCV000675447] ChrX:72713888 [GRCh38]
ChrX:71933736 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2 copy number gain not provided [RCV000684261] ChrX:7841947..90815333 [GRCh37]
ChrX:Xp22.31-q21.31		 pathogenic
GRCh37/hg19 Xq13.1-13.2(chrX:71605730-72138111)x2 copy number gain not provided [RCV000684346] ChrX:71605730..72138111 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_002637.4(PHKA1):c.3068G>A (p.Ser1023Asn) single nucleotide variant Glycogen storage disease IXd [RCV000699026] ChrX:72601995 [GRCh38]
ChrX:71821845 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.892C>T (p.Arg298Ter) single nucleotide variant Glycogen phosphorylase kinase deficiency [RCV003317349]|Glycogen storage disease IXd [RCV000701851] ChrX:72657614 [GRCh38]
ChrX:71877464 [GRCh37]
ChrX:Xq13.1		 pathogenic
Single allele deletion Cornelia de Lange syndrome 5 [RCV000708570] ChrX:72570671..72613916 [GRCh38]
ChrX:71790521..71833766 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.1592A>T (p.Tyr531Phe) single nucleotide variant Glycogen storage disease IXd [RCV001043118]|Inborn genetic diseases [RCV003160299] ChrX:72635277 [GRCh38]
ChrX:71855127 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1 copy number loss not provided [RCV000753535] ChrX:48115450..73424191 [GRCh37]
ChrX:Xp11.23-q13.2		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele duplication Autism [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_002637.4(PHKA1):c.2215C>T (p.Arg739Ter) single nucleotide variant not provided [RCV001583167] ChrX:72619228 [GRCh38]
ChrX:71839078 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_002637.4(PHKA1):c.1570-242A>G single nucleotide variant not provided [RCV001544708] ChrX:72635541 [GRCh38]
ChrX:71855391 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3073-257G>A single nucleotide variant not provided [RCV001564285] ChrX:72593531 [GRCh38]
ChrX:71813381 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.890T>C (p.Leu297Pro) single nucleotide variant Glycogen storage disease IXd [RCV001866127]|Inborn genetic diseases [RCV002573292]|not provided [RCV001586377] ChrX:72657616 [GRCh38]
ChrX:71877466 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71561387-72080121)x2 copy number gain not provided [RCV000762761] ChrX:71561387..72080121 [GRCh37]
ChrX:Xq13.1-13.2		 likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3		 pathogenic
NM_002637.4(PHKA1):c.1174C>T (p.Arg392Ter) single nucleotide variant not provided [RCV000760535] ChrX:72652615 [GRCh38]
ChrX:71872465 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.3407T>C (p.Met1136Thr) single nucleotide variant Glycogen storage disease IXd [RCV002533917]|not provided [RCV000762653] ChrX:72582489 [GRCh38]
ChrX:71802339 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2404C>T (p.Arg802Trp) single nucleotide variant Glycogen storage disease IXd [RCV002533919]|Inborn genetic diseases [RCV002533918]|not provided [RCV000762654] ChrX:72611150 [GRCh38]
ChrX:71831000 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.78+103TG[14] microsatellite not provided [RCV001693624] ChrX:72713671..72713672 [GRCh38]
ChrX:71933513..71933514 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.537+193G>T single nucleotide variant not provided [RCV001570100] ChrX:72684305 [GRCh38]
ChrX:71904155 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1793+243T>C single nucleotide variant not provided [RCV001567583] ChrX:72626728 [GRCh38]
ChrX:71846578 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.*503C>T single nucleotide variant Glycogen storage disease IXd [RCV001167369] ChrX:72580499 [GRCh38]
ChrX:71800349 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.537+214T>C single nucleotide variant not provided [RCV001567748] ChrX:72684284 [GRCh38]
ChrX:71904134 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.*804C>T single nucleotide variant Glycogen storage disease IXd [RCV001165788] ChrX:72580198 [GRCh38]
ChrX:71800048 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1401G>A (p.Glu467=) single nucleotide variant Glycogen storage disease IXd [RCV002065711] ChrX:72644420 [GRCh38]
ChrX:71864270 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2736T>C (p.Phe912=) single nucleotide variant not provided [RCV000943262] ChrX:72605350 [GRCh38]
ChrX:71825200 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3250G>A (p.Gly1084Arg) single nucleotide variant Glycogen storage disease IXd [RCV002549924]|not provided [RCV000995958] ChrX:72584296 [GRCh38]
ChrX:71804146 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1181C>A (p.Pro394His) single nucleotide variant not provided [RCV000995959] ChrX:72652608 [GRCh38]
ChrX:71872458 [GRCh37]
ChrX:Xq13.1		 uncertain significance
46,Y,inv(X)(p21.1q13.3) inversion Elevated circulating creatine kinase concentration [RCV000856573] ChrX:32196272..75245806 [GRCh37]
ChrX:Xp21.1-q13.3		 likely pathogenic
NM_002637.4(PHKA1):c.29G>A (p.Arg10Gln) single nucleotide variant Glycogen storage disease IXd [RCV000809625] ChrX:72713852 [GRCh38]
ChrX:71933700 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.2(chrX:71801020-71804146) copy number loss Glycogen storage disease IXd [RCV000767800] ChrX:71801020..71804146 [GRCh37]
ChrX:Xq13.2		 pathogenic
NM_002637.4(PHKA1):c.2770A>G (p.Ile924Val) single nucleotide variant Inborn genetic diseases [RCV003243746] ChrX:72605316 [GRCh38]
ChrX:71825166 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2816-124T>C single nucleotide variant not provided [RCV000835668] ChrX:72603344 [GRCh38]
ChrX:71823194 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3498+7A>G single nucleotide variant not provided [RCV000841401] ChrX:72582391 [GRCh38]
ChrX:71802241 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3288C>T (p.Thr1096=) single nucleotide variant Glycogen storage disease IXd [RCV002536120]|not provided [RCV000840219] ChrX:72584258 [GRCh38]
ChrX:71804108 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2063G>A (p.Arg688Gln) single nucleotide variant Glycogen storage disease IXd [RCV000785102]|Inborn genetic diseases [RCV002535720] ChrX:72620799 [GRCh38]
ChrX:71840649 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1715-175A>G single nucleotide variant not provided [RCV000826625] ChrX:72627224 [GRCh38]
ChrX:71847074 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xq13.2(chrX:71859520-71960777)x3 copy number gain not provided [RCV000848961] ChrX:71859520..71960777 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28		 pathogenic
NM_002637.4(PHKA1):c.1570-212A>G single nucleotide variant not provided [RCV000831934] ChrX:72635511 [GRCh38]
ChrX:71855361 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1740A>G (p.Ser580=) single nucleotide variant Glycogen storage disease IXd [RCV002536155]|not provided [RCV000842573] ChrX:72627024 [GRCh38]
ChrX:71846874 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.2527-1G>T single nucleotide variant Glycogen phosphorylase kinase deficiency [RCV002509551]|Glycogen storage disease IXd [RCV000809696] ChrX:72609704 [GRCh38]
ChrX:71829554 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_002637.4(PHKA1):c.3257C>A (p.Ser1086Tyr) single nucleotide variant Glycogen storage disease IXd [RCV000815389] ChrX:72584289 [GRCh38]
ChrX:71804139 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*1797A>G single nucleotide variant Glycogen storage disease IXd [RCV001165785] ChrX:72579205 [GRCh38]
ChrX:71799055 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2230-182T>C single nucleotide variant not provided [RCV000826626] ChrX:72619031 [GRCh38]
ChrX:71838881 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His) single nucleotide variant Glycogen storage disease IXd [RCV001167974]|not provided [RCV001772356] ChrX:72582525 [GRCh38]
ChrX:71802375 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2917+4A>G single nucleotide variant not provided [RCV001090312] ChrX:72603115 [GRCh38]
ChrX:71822965 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*500C>A single nucleotide variant Glycogen storage disease IXd [RCV001167370] ChrX:72580502 [GRCh38]
ChrX:71800352 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1325-26G>A single nucleotide variant not provided [RCV000836231] ChrX:72644522 [GRCh38]
ChrX:71864372 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.919-190C>T single nucleotide variant not provided [RCV000837019] ChrX:72656432 [GRCh38]
ChrX:71876282 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2715G>A (p.Met905Ile) single nucleotide variant Glycogen storage disease IXd [RCV000819489] ChrX:72605371 [GRCh38]
ChrX:71825221 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2137+221A>G single nucleotide variant not provided [RCV000837973] ChrX:72620504 [GRCh38]
ChrX:71840354 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1569+272C>T single nucleotide variant not provided [RCV000831732] ChrX:72636005 [GRCh38]
ChrX:71855855 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3073-269T>C single nucleotide variant not provided [RCV000831733] ChrX:72593543 [GRCh38]
ChrX:71813393 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1570-73A>G single nucleotide variant not provided [RCV000835632] ChrX:72635372 [GRCh38]
ChrX:71855222 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1715-127A>G single nucleotide variant not provided [RCV000835633] ChrX:72627176 [GRCh38]
ChrX:71847026 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2369+122T>C single nucleotide variant not provided [RCV000835634] ChrX:72618588 [GRCh38]
ChrX:71838438 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2606+101T>G single nucleotide variant not provided [RCV000835635] ChrX:72609523 [GRCh38]
ChrX:71829373 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys) single nucleotide variant Glycogen storage disease IXd [RCV001167434] ChrX:72653436 [GRCh38]
ChrX:71873286 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His) single nucleotide variant Glycogen storage disease IXd [RCV001169830] ChrX:72593198 [GRCh38]
ChrX:71813048 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity
NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys) single nucleotide variant Glycogen storage disease IXd [RCV001169834] ChrX:72611071 [GRCh38]
ChrX:71830921 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1698C>A (p.Ile566=) single nucleotide variant Glycogen storage disease IXd [RCV001165861] ChrX:72635171 [GRCh38]
ChrX:71855021 [GRCh37]
ChrX:Xq13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.3350G>A (p.Arg1117His) single nucleotide variant Glycogen storage disease IXd [RCV001047009]|Inborn genetic diseases [RCV003283894] ChrX:72582546 [GRCh38]
ChrX:71802396 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2190C>T (p.Phe730=) single nucleotide variant Glycogen storage disease IXd [RCV001464027] ChrX:72619253 [GRCh38]
ChrX:71839103 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1 copy number loss not provided [RCV000845670] ChrX:40572613..92796528 [GRCh37]
ChrX:Xp11.4-q21.32		 pathogenic
NM_002637.4(PHKA1):c.1714G>A (p.Asp572Asn) single nucleotide variant Glycogen storage disease IXd [RCV001225169] ChrX:72635155 [GRCh38]
ChrX:71855005 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.678_684del (p.Val227fs) deletion Glycogen storage disease IXd [RCV001198923] ChrX:72667408..72667414 [GRCh38]
ChrX:71887258..71887264 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.721A>G (p.Ile241Val) single nucleotide variant Inborn genetic diseases [RCV003240098] ChrX:72666294 [GRCh38]
ChrX:71886144 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly) single nucleotide variant Glycogen storage disease IXd [RCV001167435] ChrX:72653505 [GRCh38]
ChrX:71873355 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.536C>T (p.Ala179Val) single nucleotide variant Glycogen storage disease IXd [RCV001167436]|Inborn genetic diseases [RCV002557439]|not provided [RCV002276651] ChrX:72684499 [GRCh38]
ChrX:71904349 [GRCh37]
ChrX:Xq13.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=) single nucleotide variant Glycogen storage disease IXd [RCV001167972] ChrX:72581104 [GRCh38]
ChrX:71800954 [GRCh37]
ChrX:Xq13.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.*887A>G single nucleotide variant Glycogen storage disease IXd [RCV001165787] ChrX:72580115 [GRCh38]
ChrX:71799965 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile) single nucleotide variant Glycogen storage disease IXd [RCV001165862] ChrX:72650396 [GRCh38]
ChrX:71870246 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3541G>A (p.Ala1181Thr) single nucleotide variant not provided [RCV001090311] ChrX:72581133 [GRCh38]
ChrX:71800983 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1325-46T>C single nucleotide variant not provided [RCV001582283] ChrX:72644542 [GRCh38]
ChrX:71864392 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3244-262G>A single nucleotide variant not provided [RCV001569450] ChrX:72584564 [GRCh38]
ChrX:71804414 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1246-220C>A single nucleotide variant not provided [RCV001722083] ChrX:72650688 [GRCh38]
ChrX:71870538 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1246-164T>C single nucleotide variant not provided [RCV001555795] ChrX:72650632 [GRCh38]
ChrX:71870482 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.919-79A>G single nucleotide variant not provided [RCV001708905] ChrX:72656321 [GRCh38]
ChrX:71876171 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1297G>A (p.Val433Ile) single nucleotide variant Glycogen storage disease IXd [RCV001866168]|not provided [RCV001580784] ChrX:72650417 [GRCh38]
ChrX:71870267 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.1460-132G>T single nucleotide variant not provided [RCV001580956] ChrX:72636518 [GRCh38]
ChrX:71856368 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.78+103TG[19] microsatellite not provided [RCV001681531] ChrX:72713670..72713671 [GRCh38]
ChrX:71933512..71933513 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.918+194A>T single nucleotide variant not provided [RCV001567861] ChrX:72657394 [GRCh38]
ChrX:71877244 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.538-126AT[9] microsatellite not provided [RCV001714294] ChrX:72676260..72676261 [GRCh38]
ChrX:71896110..71896111 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3080G>C (p.Gly1027Ala) single nucleotide variant not provided [RCV001703075] ChrX:72593267 [GRCh38]
ChrX:71813117 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2174C>A (p.Ala725Asp) single nucleotide variant not provided [RCV001760613] ChrX:72619269 [GRCh38]
ChrX:71839119 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2578C>T (p.Pro860Ser) single nucleotide variant Glycogen storage disease IXd [RCV002065506]|not provided [RCV003313160] ChrX:72609652 [GRCh38]
ChrX:71829502 [GRCh37]
ChrX:Xq13.1		 likely benign|uncertain significance
NM_002637.4(PHKA1):c.2916C>T (p.Ser972=) single nucleotide variant Glycogen storage disease IXd [RCV001169831]|not provided [RCV001760118] ChrX:72603120 [GRCh38]
ChrX:71822970 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.2856G>A (p.Ser952=) single nucleotide variant Glycogen storage disease IXd [RCV001169833] ChrX:72603180 [GRCh38]
ChrX:71823030 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1151A>G (p.Tyr384Cys) single nucleotide variant Glycogen storage disease IXd [RCV002557948]|not provided [RCV001090314] ChrX:72652638 [GRCh38]
ChrX:71872488 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*772C>T single nucleotide variant Glycogen storage disease IXd [RCV001167368] ChrX:72580230 [GRCh38]
ChrX:71800080 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.538-217C>T single nucleotide variant not provided [RCV001570469] ChrX:72676367 [GRCh38]
ChrX:71896217 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.78+103TG[13] microsatellite not provided [RCV001619754] ChrX:72713671..72713674 [GRCh38]
ChrX:71933513..71933516 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1082A>G (p.Lys361Arg) single nucleotide variant Glycogen storage disease IXd [RCV002570698]|not provided [RCV001553356] ChrX:72653490 [GRCh38]
ChrX:71873340 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.717+280G>A single nucleotide variant not provided [RCV001565718] ChrX:72667095 [GRCh38]
ChrX:71886945 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.865-36G>A single nucleotide variant not provided [RCV001568851] ChrX:72657677 [GRCh38]
ChrX:71877527 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2558A>T (p.His853Leu) single nucleotide variant Glycogen storage disease IXd [RCV002470426] ChrX:72609672 [GRCh38]
ChrX:71829522 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3244-155_3618del deletion Glycogen phosphorylase kinase deficiency [RCV002470169] ChrX:72581056..72584457 [GRCh38]
ChrX:71800906..71804307 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xq13.1-13.2(chrX:71605095-71917944)x3 copy number gain not provided [RCV002473821] ChrX:71605095..71917944 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_002637.4(PHKA1):c.938A>C (p.Tyr313Ser) single nucleotide variant not provided [RCV001723279] ChrX:72656223 [GRCh38]
ChrX:71876073 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1715-200_1715-199insTCTG insertion not provided [RCV001638774] ChrX:72627248..72627249 [GRCh38]
ChrX:71847098..71847099 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.78+132= deletion not provided [RCV001617571] ChrX:72713671..72713701 [GRCh38]
ChrX:71933513..71933543 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.238-4G>A single nucleotide variant Glycogen storage disease IXd [RCV002073165]|not provided [RCV001674816] ChrX:72705249 [GRCh38]
ChrX:71925098 [GRCh37]
ChrX:Xq13.1		 benign
GRCh37/hg19 Xq13.1-13.2(chrX:71781534-72024927)x2 copy number gain not provided [RCV001007311] ChrX:71781534..72024927 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_002637.4(PHKA1):c.2370-69C>T single nucleotide variant not provided [RCV001548106] ChrX:72611253 [GRCh38]
ChrX:71831103 [GRCh37]
ChrX:Xq13.1		 likely benign
NC_000023.11:g.(?_72644342)_(72676170_?)del deletion Glycogen storage disease IXd [RCV001032614] ChrX:71864192..71896020 [GRCh37]
ChrX:Xq13.2		 pathogenic
NM_002637.4(PHKA1):c.78+103TG[17] microsatellite not provided [RCV001650236] ChrX:72713670..72713671 [GRCh38]
ChrX:71933512..71933513 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1508G>A (p.Gly503Glu) single nucleotide variant not provided [RCV001528312] ChrX:72636338 [GRCh38]
ChrX:71856188 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.864+103C>T single nucleotide variant not provided [RCV001575433] ChrX:72666048 [GRCh38]
ChrX:71885898 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3073-80dup duplication not provided [RCV001652045] ChrX:72593341..72593342 [GRCh38]
ChrX:71813191..71813192 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.619-264A>G single nucleotide variant not provided [RCV001649537] ChrX:72667737 [GRCh38]
ChrX:71887587 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.44C>G (p.Ala15Gly) single nucleotide variant Glycogen storage disease IXd [RCV001232272] ChrX:72713837 [GRCh38]
ChrX:71933685 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*2110A>G single nucleotide variant Glycogen storage disease IXd [RCV001169763] ChrX:72578892 [GRCh38]
ChrX:71798742 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*2056T>A single nucleotide variant Glycogen storage disease IXd [RCV001169764] ChrX:72578946 [GRCh38]
ChrX:71798796 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr) single nucleotide variant Glycogen storage disease IXd [RCV001167973] ChrX:72581145 [GRCh38]
ChrX:71800995 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe) single nucleotide variant Glycogen storage disease IXd [RCV001167971] ChrX:72581063 [GRCh38]
ChrX:71800913 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.-261C>A single nucleotide variant Glycogen storage disease IXd [RCV001168048]|not provided [RCV001593304] ChrX:72714141 [GRCh38]
ChrX:71933989 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.835A>G (p.Thr279Ala) single nucleotide variant Glycogen storage disease IXd [RCV001170029] ChrX:72666180 [GRCh38]
ChrX:71886030 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.742C>T (p.Arg248Cys) single nucleotide variant Glycogen storage disease IXd [RCV001203430] ChrX:72666273 [GRCh38]
ChrX:71886123 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2160G>A (p.Thr720=) single nucleotide variant Glycogen storage disease IXd [RCV001165858] ChrX:72619283 [GRCh38]
ChrX:71839133 [GRCh37]
ChrX:Xq13.1		 benign|likely benign
NM_002637.4(PHKA1):c.1540C>T (p.Arg514Trp) single nucleotide variant Glycogen storage disease IXd [RCV002554811]|not provided [RCV001090313] ChrX:72636306 [GRCh38]
ChrX:71856156 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.*1375A>G single nucleotide variant Glycogen storage disease IXd [RCV001165786] ChrX:72579627 [GRCh38]
ChrX:71799477 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1964G>A (p.Arg655His) single nucleotide variant Glycogen storage disease IXd [RCV001165859]|Inborn genetic diseases [RCV003163365] ChrX:72620898 [GRCh38]
ChrX:71840748 [GRCh37]
ChrX:Xq13.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro) single nucleotide variant Glycogen storage disease IXd [RCV001165860] ChrX:72627016 [GRCh38]
ChrX:71846866 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.442A>G (p.Met148Val) single nucleotide variant Glycogen storage disease IXd [RCV001197303] ChrX:72695720 [GRCh38]
ChrX:71915570 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.521C>G (p.Ala174Gly) single nucleotide variant Glycogen storage disease IXd [RCV001256192] ChrX:72684514 [GRCh38]
ChrX:71904364 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2725C>G (p.Pro909Ala) single nucleotide variant Glycogen storage disease IXd [RCV001262775]|not provided [RCV001796416] ChrX:72605361 [GRCh38]
ChrX:71825211 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 copy number gain See cases [RCV001263024] ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_002637.4(PHKA1):c.1039C>T (p.Gln347Ter) single nucleotide variant not provided [RCV001268838] ChrX:72656122 [GRCh38]
ChrX:71875972 [GRCh37]
ChrX:Xq13.1		 pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 copy number gain not provided [RCV001281359] ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28		 pathogenic
NM_002637.4(PHKA1):c.2603_2604del (p.Ser868fs) microsatellite Glycogen storage disease IXd [RCV001335961] ChrX:72609626..72609627 [GRCh38]
ChrX:71829476..71829477 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.1384G>A (p.Val462Met) single nucleotide variant Glycogen storage disease IXd [RCV001330746]|Inborn genetic diseases [RCV002546412] ChrX:72644437 [GRCh38]
ChrX:71864287 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.718-1G>A single nucleotide variant Glycogen storage disease IXd [RCV001294001] ChrX:72666298 [GRCh38]
ChrX:71886148 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.275T>C (p.Met92Thr) single nucleotide variant Glycogen storage disease IXd [RCV001342039] ChrX:72705208 [GRCh38]
ChrX:71925057 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1794-7T>A single nucleotide variant Glycogen storage disease IXd [RCV003106189]|not provided [RCV001310734] ChrX:72623282 [GRCh38]
ChrX:71843132 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3550A>G (p.Ile1184Val) single nucleotide variant Glycogen storage disease IXd [RCV001366319] ChrX:72581124 [GRCh38]
ChrX:71800974 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.152T>C (p.Ile51Thr) single nucleotide variant Glycogen storage disease IXd [RCV001330747] ChrX:72712864 [GRCh38]
ChrX:71932706 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2023C>G (p.Pro675Ala) single nucleotide variant Inborn genetic diseases [RCV003284361]|not provided [RCV001509122] ChrX:72620839 [GRCh38]
ChrX:71840689 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.229T>C (p.Leu77=) single nucleotide variant Glycogen storage disease IXd [RCV001399419] ChrX:72712787 [GRCh38]
ChrX:71932629 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3073-80_3073-79dup duplication not provided [RCV001540033] ChrX:72593341..72593342 [GRCh38]
ChrX:71813191..71813192 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1793+197GA[6] microsatellite not provided [RCV001608955] ChrX:72626764..72626765 [GRCh38]
ChrX:71846614..71846615 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3042T>C (p.Phe1014=) single nucleotide variant Glycogen storage disease IXd [RCV001409797] ChrX:72602021 [GRCh38]
ChrX:71821871 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1428T>A (p.Ala476=) single nucleotide variant Glycogen storage disease IXd [RCV001446026] ChrX:72644393 [GRCh38]
ChrX:71864243 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.869G>A (p.Arg290His) single nucleotide variant not provided [RCV001508041] ChrX:72657637 [GRCh38]
ChrX:71877487 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3499-67del deletion not provided [RCV001588671] ChrX:72581242 [GRCh38]
ChrX:71801092 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.78+103TG[16] microsatellite not provided [RCV001611199] ChrX:72713670..72713671 [GRCh38]
ChrX:71933512..71933513 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.1998C>T (p.His666=) single nucleotide variant Glycogen storage disease IXd [RCV001476477] ChrX:72620864 [GRCh38]
ChrX:71840714 [GRCh37]
ChrX:Xq13.1		 likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.3499-30del deletion not provided [RCV001590855] ChrX:72581205 [GRCh38]
ChrX:71801055 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3244-288T>G single nucleotide variant not provided [RCV001714821] ChrX:72584590 [GRCh38]
ChrX:71804440 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2806C>T (p.Arg936Ter) single nucleotide variant not provided [RCV001528250] ChrX:72605280 [GRCh38]
ChrX:71825130 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter) single nucleotide variant Glycogen storage disease IXd [RCV002250225] ChrX:72667457 [GRCh38]
ChrX:71887307 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.979G>C (p.Glu327Gln) single nucleotide variant not provided [RCV001730425] ChrX:72656182 [GRCh38]
ChrX:71876032 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.849C>G (p.Ile283Met) single nucleotide variant not provided [RCV001761411] ChrX:72666166 [GRCh38]
ChrX:71886016 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3036G>A (p.Val1012=) single nucleotide variant not provided [RCV003238502] ChrX:72602027 [GRCh38]
ChrX:71821877 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1345_1346del (p.Glu449fs) deletion not provided [RCV002254511] ChrX:72644475..72644476 [GRCh38]
ChrX:71864325..71864326 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_002637.4(PHKA1):c.3331G>A (p.Val1111Met) single nucleotide variant Glycogen storage disease IXd [RCV002540297]|not provided [RCV001772405] ChrX:72582565 [GRCh38]
ChrX:71802415 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.751A>G (p.Thr251Ala) single nucleotide variant not provided [RCV001754436] ChrX:72666264 [GRCh38]
ChrX:71886114 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1282C>T (p.Arg428Cys) single nucleotide variant Glycogen storage disease IXd [RCV001732881] ChrX:72650432 [GRCh38]
ChrX:71870282 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3431G>A (p.Ser1144Asn) single nucleotide variant not provided [RCV001765558] ChrX:72582465 [GRCh38]
ChrX:71802315 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.778C>T (p.Leu260Phe) single nucleotide variant not provided [RCV001756926] ChrX:72666237 [GRCh38]
ChrX:71886087 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28		 pathogenic
NC_000023.10:g.71681853_72434328del752476 deletion Cornelia de Lange syndrome 5 [RCV000191047] ChrX:71681853..72434328 [GRCh37]
ChrX:Xq13.1-13.2		 pathogenic|likely pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1 copy number loss See cases [RCV000511311] ChrX:55240087..78225374 [GRCh37]
ChrX:Xp11.21-q21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV000848828] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.381T>C (p.Asp127=) single nucleotide variant Glycogen storage disease IXd [RCV003106439] ChrX:72695781 [GRCh38]
ChrX:71915631 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3088A>G (p.Met1030Val) single nucleotide variant Glycogen storage disease IXd [RCV001761616]|not provided [RCV003238501] ChrX:72593259 [GRCh38]
ChrX:71813109 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.182A>G (p.Tyr61Cys) single nucleotide variant Glycogen storage disease IXd [RCV001809104] ChrX:72712834 [GRCh38]
ChrX:71932676 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.1459+4A>G single nucleotide variant Glycogen storage disease IXd [RCV002538741]|not provided [RCV001756469] ChrX:72644358 [GRCh38]
ChrX:71864208 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1366A>G (p.Lys456Glu) single nucleotide variant Glycogen storage disease IXd [RCV001929160] ChrX:72644455 [GRCh38]
ChrX:71864305 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2243G>A (p.Arg748His) single nucleotide variant Glycogen storage disease IXd [RCV001895144] ChrX:72618836 [GRCh38]
ChrX:71838686 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1222A>T (p.Ile408Phe) single nucleotide variant Glycogen storage disease IXd [RCV001987783] ChrX:72652567 [GRCh38]
ChrX:71872417 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3389C>T (p.Ala1130Val) single nucleotide variant not specified [RCV001844576] ChrX:72582507 [GRCh38]
ChrX:71802357 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2003T>C (p.Leu668Ser) single nucleotide variant Glycogen storage disease IXd [RCV001969416] ChrX:72620859 [GRCh38]
ChrX:71840709 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71566947-72016381) copy number gain not specified [RCV002053145] ChrX:71566947..72016381 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671) copy number gain not specified [RCV002053136] ChrX:61974855..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
NM_002637.4(PHKA1):c.315T>G (p.Ser105Arg) single nucleotide variant Glycogen storage disease IXd [RCV001893733] ChrX:72695847 [GRCh38]
ChrX:71915697 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71591239-71845812) copy number gain not specified [RCV002053146] ChrX:71591239..71845812 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not provided [RCV001834509] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.2339C>T (p.Ala780Val) single nucleotide variant Inborn genetic diseases [RCV002543314]|not specified [RCV001844575] ChrX:72618740 [GRCh38]
ChrX:71838590 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2480G>A (p.Arg827Gln) single nucleotide variant Glycogen storage disease IXd [RCV001946268] ChrX:72611074 [GRCh38]
ChrX:71830924 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.812_813dup (p.Asp272fs) microsatellite Glycogen storage disease IXd [RCV001928354] ChrX:72666201..72666202 [GRCh38]
ChrX:71886051..71886052 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.3436G>A (p.Gly1146Arg) single nucleotide variant Glycogen storage disease IXd [RCV001912755]|Inborn genetic diseases [RCV003289195] ChrX:72582460 [GRCh38]
ChrX:71802310 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3034-6T>A single nucleotide variant Glycogen storage disease IXd [RCV001947644] ChrX:72602035 [GRCh38]
ChrX:71821885 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671) copy number gain not specified [RCV002053135] ChrX:61877278..79123671 [GRCh37]
ChrX:Xq11.1-21.1		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain not provided [RCV001829212] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.184C>T (p.Arg62Trp) single nucleotide variant Glycogen storage disease IXd [RCV001925850] ChrX:72712832 [GRCh38]
ChrX:71932674 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1429C>T (p.Arg477Cys) single nucleotide variant Glycogen storage disease IXd [RCV001884121] ChrX:72644392 [GRCh38]
ChrX:71864242 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3568G>C (p.Asp1190His) single nucleotide variant Glycogen storage disease IXd [RCV001960996] ChrX:72581106 [GRCh38]
ChrX:71800956 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.493A>G (p.Ile165Val) single nucleotide variant Glycogen storage disease IXd [RCV001957040] ChrX:72684542 [GRCh38]
ChrX:71904392 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1759C>T (p.Arg587Ter) single nucleotide variant Glycogen storage disease IXd [RCV001876720] ChrX:72627005 [GRCh38]
ChrX:71846855 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.1348G>A (p.Glu450Lys) single nucleotide variant Glycogen storage disease IXd [RCV001932924] ChrX:72644473 [GRCh38]
ChrX:71864323 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2219A>G (p.Gln740Arg) single nucleotide variant Glycogen storage disease IXd [RCV002030147] ChrX:72619224 [GRCh38]
ChrX:71839074 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3622G>A (p.Ala1208Thr) single nucleotide variant Glycogen storage disease IXd [RCV001918754] ChrX:72581052 [GRCh38]
ChrX:71800902 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2033C>A (p.Ala678Asp) single nucleotide variant Glycogen storage disease IXd [RCV001921456] ChrX:72620829 [GRCh38]
ChrX:71840679 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3166C>T (p.Arg1056Cys) single nucleotide variant Glycogen storage disease IXd [RCV002048685] ChrX:72593181 [GRCh38]
ChrX:71813031 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3626C>T (p.Thr1209Ile) single nucleotide variant Glycogen storage disease IXd [RCV001907401] ChrX:72581048 [GRCh38]
ChrX:71800898 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1214C>T (p.Ser405Phe) single nucleotide variant Glycogen storage disease IXd [RCV002013086] ChrX:72652575 [GRCh38]
ChrX:71872425 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2006C>T (p.Ala669Val) single nucleotide variant Glycogen storage disease IXd [RCV001879125] ChrX:72620856 [GRCh38]
ChrX:71840706 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2756G>T (p.Arg919Leu) single nucleotide variant Glycogen storage disease IXd [RCV001955109] ChrX:72605330 [GRCh38]
ChrX:71825180 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3034-15C>T single nucleotide variant Glycogen storage disease IXd [RCV002013910] ChrX:72602044 [GRCh38]
ChrX:71821894 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2229+15G>T single nucleotide variant Glycogen storage disease IXd [RCV002166843] ChrX:72619199 [GRCh38]
ChrX:71839049 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.3297+113A>C single nucleotide variant not provided [RCV002224448] ChrX:72584136 [GRCh38]
ChrX:71803986 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1309G>A (p.Asp437Asn) single nucleotide variant Glycogen storage disease IXd [RCV002107770] ChrX:72650405 [GRCh38]
ChrX:71870255 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2607-15T>G single nucleotide variant Glycogen storage disease IXd [RCV002075093] ChrX:72605634 [GRCh38]
ChrX:71825484 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.777A>G (p.Leu259=) single nucleotide variant Glycogen storage disease IXd [RCV002127715] ChrX:72666238 [GRCh38]
ChrX:71886088 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2439G>C (p.Leu813=) single nucleotide variant Glycogen storage disease IXd [RCV002088039] ChrX:72611115 [GRCh38]
ChrX:71830965 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2763T>A (p.Gly921=) single nucleotide variant Glycogen storage disease IXd [RCV002169629] ChrX:72605323 [GRCh38]
ChrX:71825173 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3170G>A (p.Arg1057Gln) single nucleotide variant Glycogen storage disease IXd [RCV003101284]|not provided [RCV002223740] ChrX:72593177 [GRCh38]
ChrX:71813027 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.855C>T (p.Thr285=) single nucleotide variant Glycogen storage disease IXd [RCV002210389] ChrX:72666160 [GRCh38]
ChrX:71886010 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1311T>C (p.Asp437=) single nucleotide variant Glycogen storage disease IXd [RCV002199448] ChrX:72650403 [GRCh38]
ChrX:71870253 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.750A>G (p.Ser250=) single nucleotide variant Glycogen storage disease IXd [RCV002141610] ChrX:72666265 [GRCh38]
ChrX:71886115 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2403A>G (p.Glu801=) single nucleotide variant Glycogen storage disease IXd [RCV002182356] ChrX:72611151 [GRCh38]
ChrX:71831001 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2607-5C>T single nucleotide variant Glycogen storage disease IXd [RCV002136291] ChrX:72605624 [GRCh38]
ChrX:71825474 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2088C>T (p.Thr696=) single nucleotide variant Glycogen storage disease IXd [RCV002084314] ChrX:72620774 [GRCh38]
ChrX:71840624 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.78+16TC[2] microsatellite Glycogen storage disease IXd [RCV002156974] ChrX:72713782..72713783 [GRCh38]
ChrX:71933630..71933631 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2625G>A (p.Ala875=) single nucleotide variant Glycogen storage disease IXd [RCV002142072] ChrX:72605601 [GRCh38]
ChrX:71825451 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3366G>A (p.Glu1122=) single nucleotide variant Glycogen storage disease IXd [RCV003110628] ChrX:72582530 [GRCh38]
ChrX:71802380 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3090G>T (p.Met1030Ile) single nucleotide variant Glycogen storage disease IXd [RCV003112111] ChrX:72593257 [GRCh38]
ChrX:71813107 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NC_000023.10:g.(?_71854985)_(71933728_?)dup duplication Glycogen storage disease IXd [RCV003122592] ChrX:71854985..71933728 [GRCh37]
ChrX:Xq13.2		 uncertain significance
NC_000023.10:g.(?_71875950)_(71925114_?)dup duplication Glycogen storage disease IXd [RCV003122593] ChrX:71875950..71925114 [GRCh37]
ChrX:Xq13.2		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.3145A>G (p.Ser1049Gly) single nucleotide variant not provided [RCV002275830] ChrX:72593202 [GRCh38]
ChrX:71813052 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.533C>G (p.Thr178Ser) single nucleotide variant not provided [RCV003236068] ChrX:72684502 [GRCh38]
ChrX:71904352 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1245+4A>C single nucleotide variant not specified [RCV003236514] ChrX:72652540 [GRCh38]
ChrX:71872390 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 copy number loss See cases [RCV002286357] ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number gain 46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
NM_002637.4(PHKA1):c.306C>A (p.Phe102Leu) single nucleotide variant not provided [RCV002293227] ChrX:72695856 [GRCh38]
ChrX:71915706 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1416A>C (p.Arg472Ser) single nucleotide variant Glycogen storage disease IXd [RCV003097688]|not provided [RCV002285650] ChrX:72644405 [GRCh38]
ChrX:71864255 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2050G>T (p.Gly684Ter) single nucleotide variant not provided [RCV002293226] ChrX:72620812 [GRCh38]
ChrX:71840662 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.1745T>C (p.Ile582Thr) single nucleotide variant Glycogen storage disease IXd [RCV002289090] ChrX:72627019 [GRCh38]
ChrX:71846869 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1100C>T (p.Pro367Leu) single nucleotide variant Glycogen storage disease IXd [RCV002303929] ChrX:72653472 [GRCh38]
ChrX:71873322 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2230G>A (p.Val744Ile) single nucleotide variant not provided [RCV003230082] ChrX:72618849 [GRCh38]
ChrX:71838699 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2615C>T (p.Pro872Leu) single nucleotide variant Glycogen storage disease IXd [RCV002301618] ChrX:72605611 [GRCh38]
ChrX:71825461 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1191A>T (p.Lys397Asn) single nucleotide variant Glycogen storage disease IXd [RCV002302951] ChrX:72652598 [GRCh38]
ChrX:71872448 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.664G>T (p.Gly222Cys) single nucleotide variant Glycogen storage disease IXd [RCV002299167] ChrX:72667428 [GRCh38]
ChrX:71887278 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2657G>C (p.Gly886Ala) single nucleotide variant Glycogen storage disease IXd [RCV002302101] ChrX:72605569 [GRCh38]
ChrX:71825419 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1946A>C (p.Asp649Ala) single nucleotide variant Glycogen storage disease IXd [RCV002995469] ChrX:72623123 [GRCh38]
ChrX:71842973 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1569+16T>A single nucleotide variant Glycogen storage disease IXd [RCV002730761] ChrX:72636261 [GRCh38]
ChrX:71856111 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2751A>T (p.Arg917=) single nucleotide variant Glycogen storage disease IXd [RCV002727242] ChrX:72605335 [GRCh38]
ChrX:71825185 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.445A>G (p.Thr149Ala) single nucleotide variant Inborn genetic diseases [RCV002732155] ChrX:72695717 [GRCh38]
ChrX:71915567 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq13.1-13.2(chrX:71605731-71917944)x3 copy number gain not provided [RCV002475799] ChrX:71605731..71917944 [GRCh37]
ChrX:Xq13.1-13.2		 uncertain significance
NM_002637.4(PHKA1):c.2936A>C (p.Asn979Thr) single nucleotide variant Inborn genetic diseases [RCV002865336] ChrX:72602255 [GRCh38]
ChrX:71822105 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2756G>A (p.Arg919Gln) single nucleotide variant Glycogen storage disease IXd [RCV002756611] ChrX:72605330 [GRCh38]
ChrX:71825180 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1057G>A (p.Glu353Lys) single nucleotide variant Glycogen storage disease IXd [RCV002994098] ChrX:72653515 [GRCh38]
ChrX:71873365 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2137+13G>A single nucleotide variant Glycogen storage disease IXd [RCV002617609] ChrX:72620712 [GRCh38]
ChrX:71840562 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1760G>A (p.Arg587Gln) single nucleotide variant Glycogen storage disease IXd [RCV003076709] ChrX:72627004 [GRCh38]
ChrX:71846854 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.169T>C (p.Leu57=) single nucleotide variant Glycogen storage disease IXd [RCV002972472] ChrX:72712847 [GRCh38]
ChrX:71932689 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2007G>A (p.Ala669=) single nucleotide variant Glycogen storage disease IXd [RCV002615379] ChrX:72620855 [GRCh38]
ChrX:71840705 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1176A>C (p.Arg392=) single nucleotide variant Glycogen storage disease IXd [RCV002881215] ChrX:72652613 [GRCh38]
ChrX:71872463 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3538C>A (p.Pro1180Thr) single nucleotide variant Glycogen storage disease IXd [RCV003075317] ChrX:72581136 [GRCh38]
ChrX:71800986 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.285+5G>A single nucleotide variant Glycogen storage disease IXd [RCV002881639] ChrX:72705193 [GRCh38]
ChrX:71925042 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.362G>A (p.Cys121Tyr) single nucleotide variant Inborn genetic diseases [RCV002836764] ChrX:72695800 [GRCh38]
ChrX:71915650 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1166C>T (p.Thr389Ile) single nucleotide variant Inborn genetic diseases [RCV002729202] ChrX:72652623 [GRCh38]
ChrX:71872473 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.900A>G (p.Gly300=) single nucleotide variant Glycogen storage disease IXd [RCV002995924] ChrX:72657606 [GRCh38]
ChrX:71877456 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.534T>G (p.Thr178=) single nucleotide variant Glycogen storage disease IXd [RCV002756037] ChrX:72684501 [GRCh38]
ChrX:71904351 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2514A>C (p.Glu838Asp) single nucleotide variant Glycogen storage disease IXd [RCV003075963] ChrX:72611040 [GRCh38]
ChrX:71830890 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2229+15G>A single nucleotide variant Glycogen storage disease IXd [RCV003037891] ChrX:72619199 [GRCh38]
ChrX:71839049 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3621C>T (p.Ala1207=) single nucleotide variant Glycogen storage disease IXd [RCV002948382] ChrX:72581053 [GRCh38]
ChrX:71800903 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2606+7A>G single nucleotide variant Glycogen storage disease IXd [RCV003002505] ChrX:72609617 [GRCh38]
ChrX:71829467 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3474C>T (p.Ala1158=) single nucleotide variant Glycogen storage disease IXd [RCV002820483] ChrX:72582422 [GRCh38]
ChrX:71802272 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3356C>T (p.Pro1119Leu) single nucleotide variant Glycogen storage disease IXd [RCV002620131] ChrX:72582540 [GRCh38]
ChrX:71802390 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.919-17T>C single nucleotide variant Glycogen storage disease IXd [RCV002846977] ChrX:72656259 [GRCh38]
ChrX:71876109 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3297+11C>G single nucleotide variant Glycogen storage disease IXd [RCV002621601] ChrX:72584238 [GRCh38]
ChrX:71804088 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2815+15A>G single nucleotide variant Glycogen storage disease IXd [RCV002912616] ChrX:72605256 [GRCh38]
ChrX:71825106 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2460dup (p.Arg821fs) duplication Glycogen storage disease IXd [RCV002639025] ChrX:72611093..72611094 [GRCh38]
ChrX:71830943..71830944 [GRCh37]
ChrX:Xq13.1		 pathogenic
NM_002637.4(PHKA1):c.1663C>T (p.Arg555Trp) single nucleotide variant Glycogen storage disease IXd [RCV002760150] ChrX:72635206 [GRCh38]
ChrX:71855056 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1016G>A (p.Gly339Glu) single nucleotide variant Glycogen storage disease IXd [RCV002781051] ChrX:72656145 [GRCh38]
ChrX:71875995 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1664G>A (p.Arg555Gln) single nucleotide variant Glycogen storage disease IXd [RCV002619082] ChrX:72635205 [GRCh38]
ChrX:71855055 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.975G>A (p.Glu325=) single nucleotide variant Glycogen storage disease IXd [RCV002636407] ChrX:72656186 [GRCh38]
ChrX:71876036 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1460-15T>C single nucleotide variant Glycogen storage disease IXd [RCV002591819] ChrX:72636401 [GRCh38]
ChrX:71856251 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.682A>G (p.Ile228Val) single nucleotide variant Inborn genetic diseases [RCV002782158] ChrX:72667410 [GRCh38]
ChrX:71887260 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.238-2A>T single nucleotide variant Glycogen storage disease IXd [RCV002870683] ChrX:72705247 [GRCh38]
ChrX:71925096 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
NM_002637.4(PHKA1):c.1460-12A>G single nucleotide variant Glycogen storage disease IXd [RCV002795387] ChrX:72636398 [GRCh38]
ChrX:71856248 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2146A>G (p.Met716Val) single nucleotide variant Glycogen storage disease IXd [RCV002622560] ChrX:72619297 [GRCh38]
ChrX:71839147 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2513A>G (p.Glu838Gly) single nucleotide variant Glycogen storage disease IXd [RCV003021423] ChrX:72611041 [GRCh38]
ChrX:71830891 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2212C>A (p.Pro738Thr) single nucleotide variant Glycogen storage disease IXd [RCV002770357]|Inborn genetic diseases [RCV002800056] ChrX:72619231 [GRCh38]
ChrX:71839081 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2384A>G (p.Asn795Ser) single nucleotide variant Glycogen storage disease IXd [RCV002735914] ChrX:72611170 [GRCh38]
ChrX:71831020 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2780T>C (p.Met927Thr) single nucleotide variant Glycogen storage disease IXd [RCV002591978] ChrX:72605306 [GRCh38]
ChrX:71825156 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1746C>G (p.Ile582Met) single nucleotide variant Glycogen storage disease IXd [RCV002640018] ChrX:72627018 [GRCh38]
ChrX:71846868 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2890G>A (p.Gly964Ser) single nucleotide variant Glycogen storage disease IXd [RCV002591831] ChrX:72603146 [GRCh38]
ChrX:71822996 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3439A>G (p.Ser1147Gly) single nucleotide variant Glycogen storage disease IXd [RCV003069905]|Inborn genetic diseases [RCV003079898] ChrX:72582457 [GRCh38]
ChrX:71802307 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2667C>T (p.Ser889=) single nucleotide variant Glycogen storage disease IXd [RCV002889143] ChrX:72605559 [GRCh38]
ChrX:71825409 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2216G>A (p.Arg739Gln) single nucleotide variant Glycogen storage disease IXd [RCV002923796] ChrX:72619227 [GRCh38]
ChrX:71839077 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.303C>T (p.Ser101=) single nucleotide variant Glycogen storage disease IXd [RCV002694956] ChrX:72695859 [GRCh38]
ChrX:71915709 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2618A>G (p.Tyr873Cys) single nucleotide variant Glycogen storage disease IXd [RCV002949491] ChrX:72605608 [GRCh38]
ChrX:71825458 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3657C>T (p.Ile1219=) single nucleotide variant Glycogen storage disease IXd [RCV002659240] ChrX:72581017 [GRCh38]
ChrX:71800867 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1137+17C>T single nucleotide variant Glycogen storage disease IXd [RCV003077305] ChrX:72653418 [GRCh38]
ChrX:71873268 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2607-7T>C single nucleotide variant Glycogen storage disease IXd [RCV002957717] ChrX:72605626 [GRCh38]
ChrX:71825476 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.237+16A>G single nucleotide variant Glycogen storage disease IXd [RCV003005219] ChrX:72712763 [GRCh38]
ChrX:71932605 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3526T>C (p.Leu1176=) single nucleotide variant Glycogen storage disease IXd [RCV002701543] ChrX:72581148 [GRCh38]
ChrX:71800998 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2750G>A (p.Arg917Gln) single nucleotide variant Glycogen storage disease IXd [RCV002643410] ChrX:72605336 [GRCh38]
ChrX:71825186 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1296T>A (p.Thr432=) single nucleotide variant Glycogen storage disease IXd [RCV002957783] ChrX:72650418 [GRCh38]
ChrX:71870268 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3244-12dup duplication Glycogen storage disease IXd [RCV002741722] ChrX:72584313..72584314 [GRCh38]
ChrX:71804163..71804164 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.484G>A (p.Val162Ile) single nucleotide variant Glycogen storage disease IXd [RCV003056158] ChrX:72684551 [GRCh38]
ChrX:71904401 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1776G>T (p.Gly592=) single nucleotide variant Glycogen storage disease IXd [RCV003082627] ChrX:72626988 [GRCh38]
ChrX:71846838 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2920C>T (p.Arg974Cys) single nucleotide variant Glycogen storage disease IXd [RCV003056746] ChrX:72602271 [GRCh38]
ChrX:71822121 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1459+19C>T single nucleotide variant Glycogen storage disease IXd [RCV002664147] ChrX:72644343 [GRCh38]
ChrX:71864193 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3044G>A (p.Arg1015His) single nucleotide variant Glycogen storage disease IXd [RCV002710727] ChrX:72602019 [GRCh38]
ChrX:71821869 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3244-29_3244-15del microsatellite Glycogen storage disease IXd [RCV002765864] ChrX:72584317..72584331 [GRCh38]
ChrX:71804167..71804181 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.461A>T (p.His154Leu) single nucleotide variant Inborn genetic diseases [RCV002916235] ChrX:72684574 [GRCh38]
ChrX:71904424 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3502A>T (p.Thr1168Ser) single nucleotide variant Inborn genetic diseases [RCV002893365] ChrX:72581172 [GRCh38]
ChrX:71801022 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1316T>C (p.Val439Ala) single nucleotide variant Glycogen storage disease IXd [RCV002663489] ChrX:72650398 [GRCh38]
ChrX:71870248 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1245+20C>A single nucleotide variant Glycogen storage disease IXd [RCV002624345] ChrX:72652524 [GRCh38]
ChrX:71872374 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3101G>A (p.Ser1034Asn) single nucleotide variant Glycogen storage disease IXd [RCV002786485] ChrX:72593246 [GRCh38]
ChrX:71813096 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1361T>C (p.Ile454Thr) single nucleotide variant Glycogen storage disease IXd [RCV003083709] ChrX:72644460 [GRCh38]
ChrX:71864310 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1092T>C (p.Asn364=) single nucleotide variant Glycogen storage disease IXd [RCV002791333] ChrX:72653480 [GRCh38]
ChrX:71873330 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2138-5T>C single nucleotide variant Glycogen storage disease IXd [RCV002890579] ChrX:72619310 [GRCh38]
ChrX:71839160 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.126T>C (p.Ala42=) single nucleotide variant Glycogen storage disease IXd [RCV003083710] ChrX:72712890 [GRCh38]
ChrX:71932732 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2527-12A>G single nucleotide variant Glycogen storage disease IXd [RCV002982591] ChrX:72609715 [GRCh38]
ChrX:71829565 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2965A>T (p.Ile989Phe) single nucleotide variant Glycogen storage disease IXd [RCV002929127] ChrX:72602226 [GRCh38]
ChrX:71822076 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2035C>A (p.Pro679Thr) single nucleotide variant Glycogen storage disease IXd [RCV002766053] ChrX:72620827 [GRCh38]
ChrX:71840677 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2938G>A (p.Val980Ile) single nucleotide variant Glycogen storage disease IXd [RCV002595308] ChrX:72602253 [GRCh38]
ChrX:71822103 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1460-17T>C single nucleotide variant Glycogen storage disease IXd [RCV002829693] ChrX:72636403 [GRCh38]
ChrX:71856253 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.446C>T (p.Thr149Ile) single nucleotide variant Glycogen storage disease IXd [RCV002805609] ChrX:72695716 [GRCh38]
ChrX:71915566 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2461C>T (p.Arg821Cys) single nucleotide variant Glycogen storage disease IXd [RCV002644445] ChrX:72611093 [GRCh38]
ChrX:71830943 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.286-9T>C single nucleotide variant Glycogen storage disease IXd [RCV002985526] ChrX:72695885 [GRCh38]
ChrX:71915735 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.78+15G>A single nucleotide variant Glycogen storage disease IXd [RCV002700918] ChrX:72713788 [GRCh38]
ChrX:71933636 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.723C>G (p.Ile241Met) single nucleotide variant Glycogen storage disease IXd [RCV002928715] ChrX:72666292 [GRCh38]
ChrX:71886142 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2391A>G (p.Glu797=) single nucleotide variant Glycogen storage disease IXd [RCV002967308] ChrX:72611163 [GRCh38]
ChrX:71831013 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2008C>T (p.His670Tyr) single nucleotide variant Glycogen storage disease IXd [RCV003092038] ChrX:72620854 [GRCh38]
ChrX:71840704 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2613G>A (p.Leu871=) single nucleotide variant Glycogen storage disease IXd [RCV003049369] ChrX:72605613 [GRCh38]
ChrX:71825463 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3255T>G (p.Leu1085=) single nucleotide variant Glycogen storage disease IXd [RCV002630344] ChrX:72584291 [GRCh38]
ChrX:71804141 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2369+12A>G single nucleotide variant Glycogen storage disease IXd [RCV002746044] ChrX:72618698 [GRCh38]
ChrX:71838548 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2365A>G (p.Met789Val) single nucleotide variant Glycogen storage disease IXd [RCV002962877] ChrX:72618714 [GRCh38]
ChrX:71838564 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.2689A>G (p.Ile897Val) single nucleotide variant Glycogen storage disease IXd [RCV002807111] ChrX:72605397 [GRCh38]
ChrX:71825247 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.543C>T (p.Phe181=) single nucleotide variant Glycogen storage disease IXd [RCV002895410] ChrX:72676145 [GRCh38]
ChrX:71895995 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2969G>A (p.Gly990Asp) single nucleotide variant Glycogen storage disease IXd [RCV003086529] ChrX:72602222 [GRCh38]
ChrX:71822072 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1137+13G>A single nucleotide variant Glycogen storage disease IXd [RCV002647978] ChrX:72653422 [GRCh38]
ChrX:71873272 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2230-18T>C single nucleotide variant Glycogen storage disease IXd [RCV002579118] ChrX:72618867 [GRCh38]
ChrX:71838717 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2623G>A (p.Ala875Thr) single nucleotide variant Glycogen storage disease IXd [RCV003089534] ChrX:72605603 [GRCh38]
ChrX:71825453 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1726A>G (p.Thr576Ala) single nucleotide variant Glycogen storage disease IXd [RCV003090767] ChrX:72627038 [GRCh38]
ChrX:71846888 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2370A>G (p.Lys790=) single nucleotide variant Glycogen storage disease IXd [RCV002966377] ChrX:72611184 [GRCh38]
ChrX:71831034 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2200G>A (p.Asp734Asn) single nucleotide variant Glycogen storage disease IXd [RCV003088615] ChrX:72619243 [GRCh38]
ChrX:71839093 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1657C>T (p.Arg553Cys) single nucleotide variant Glycogen storage disease IXd [RCV002629560] ChrX:72635212 [GRCh38]
ChrX:71855062 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.618+16T>G single nucleotide variant Glycogen storage disease IXd [RCV002715255] ChrX:72676054 [GRCh38]
ChrX:71895904 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3444C>A (p.Ile1148=) single nucleotide variant Glycogen storage disease IXd [RCV003088762] ChrX:72582452 [GRCh38]
ChrX:71802302 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.184C>G (p.Arg62Gly) single nucleotide variant Glycogen storage disease IXd [RCV002601254] ChrX:72712832 [GRCh38]
ChrX:71932674 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2422G>A (p.Glu808Lys) single nucleotide variant Glycogen storage disease IXd [RCV002833147] ChrX:72611132 [GRCh38]
ChrX:71830982 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1623A>C (p.Glu541Asp) single nucleotide variant Glycogen storage disease IXd [RCV002988466] ChrX:72635246 [GRCh38]
ChrX:71855096 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1793+18A>G single nucleotide variant Glycogen storage disease IXd [RCV002722048] ChrX:72626953 [GRCh38]
ChrX:71846803 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2101_2106del (p.Ser701_Leu702del) deletion Glycogen storage disease IXd [RCV002944147] ChrX:72620756..72620761 [GRCh38]
ChrX:71840606..71840611 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3223G>C (p.Val1075Leu) single nucleotide variant Glycogen storage disease IXd [RCV003067593] ChrX:72593124 [GRCh38]
ChrX:71812974 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1749G>C (p.Leu583=) single nucleotide variant Glycogen storage disease IXd [RCV003050903] ChrX:72627015 [GRCh38]
ChrX:71846865 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.665G>T (p.Gly222Val) single nucleotide variant Glycogen storage disease IXd [RCV002725617] ChrX:72667427 [GRCh38]
ChrX:71887277 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3119C>T (p.Ala1040Val) single nucleotide variant Glycogen storage disease IXd [RCV002653785] ChrX:72593228 [GRCh38]
ChrX:71813078 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1041+19A>T single nucleotide variant Glycogen storage disease IXd [RCV003068204] ChrX:72656101 [GRCh38]
ChrX:71875951 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2180G>A (p.Arg727Gln) single nucleotide variant Glycogen storage disease IXd [RCV002942803]|Inborn genetic diseases [RCV003269339] ChrX:72619263 [GRCh38]
ChrX:71839113 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.732A>C (p.Ser244=) single nucleotide variant Glycogen storage disease IXd [RCV002607376] ChrX:72666283 [GRCh38]
ChrX:71886133 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.3630C>T (p.Tyr1210=) single nucleotide variant Glycogen storage disease IXd [RCV003067173] ChrX:72581044 [GRCh38]
ChrX:71800894 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1819T>C (p.Phe607Leu) single nucleotide variant Glycogen storage disease IXd [RCV002603992] ChrX:72623250 [GRCh38]
ChrX:71843100 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1460-15T>A single nucleotide variant Glycogen storage disease IXd [RCV002585347] ChrX:72636401 [GRCh38]
ChrX:71856251 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.384T>C (p.Asp128=) single nucleotide variant Glycogen storage disease IXd [RCV002607244] ChrX:72695778 [GRCh38]
ChrX:71915628 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.1961-14C>G single nucleotide variant Glycogen storage disease IXd [RCV003067730] ChrX:72620915 [GRCh38]
ChrX:71840765 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2138-16T>C single nucleotide variant Glycogen storage disease IXd [RCV003092799] ChrX:72619321 [GRCh38]
ChrX:71839171 [GRCh37]
ChrX:Xq13.1		 likely benign
NM_002637.4(PHKA1):c.2603C>T (p.Ser868Phe) single nucleotide variant Glycogen storage disease IXd [RCV002942817] ChrX:72609627 [GRCh38]
ChrX:71829477 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3143A>G (p.Asp1048Gly) single nucleotide variant Glycogen storage disease IXd [RCV003066987] ChrX:72593204 [GRCh38]
ChrX:71813054 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1042-20T>G single nucleotide variant Glycogen storage disease IXd [RCV002943144] ChrX:72653550 [GRCh38]
ChrX:71873400 [GRCh37]
ChrX:Xq13.1		 benign
NM_002637.4(PHKA1):c.743G>A (p.Arg248His) single nucleotide variant Glycogen storage disease IXd [RCV003068909]|Inborn genetic diseases [RCV003294447] ChrX:72666272 [GRCh38]
ChrX:71886122 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.3121T>C (p.Tyr1041His) single nucleotide variant Glycogen storage disease IXd [RCV002612543] ChrX:72593226 [GRCh38]
ChrX:71813076 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.1393A>G (p.Ile465Val) single nucleotide variant Glycogen storage disease IXd [RCV002612763] ChrX:72644428 [GRCh38]
ChrX:71864278 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2840T>C (p.Met947Thr) single nucleotide variant Inborn genetic diseases [RCV003201473] ChrX:72603196 [GRCh38]
ChrX:71823046 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2917G>A (p.Val973Ile) single nucleotide variant Glycogen storage disease IXd [RCV003134826] ChrX:72603119 [GRCh38]
ChrX:71822969 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.219G>T (p.Lys73Asn) single nucleotide variant Glycogen storage disease IXd [RCV003140583] ChrX:72712797 [GRCh38]
ChrX:71932639 [GRCh37]
ChrX:Xq13.1		 uncertain significance
NM_002637.4(PHKA1):c.2527-9T>C single nucleotide variant not provided [RCV003323107] ChrX:72609712 [GRCh38]
ChrX:71829562 [GRCh37]
ChrX:Xq13.1		 uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) copy number loss Turner syndrome [RCV002280672] ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28		 pathogenic
NM_002637.4(PHKA1):c.919-2A>G single nucleotide variant Glycogen storage disease IXd [RCV002249127] ChrX:72656244 [GRCh38]
ChrX:71876094 [GRCh37]
ChrX:Xq13.1		 likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5249
Count of miRNA genes:942
Interacting mature miRNAs:1121
Transcripts:ENST00000339490, ENST00000373539, ENST00000373542, ENST00000373545, ENST00000541944
Prediction methods:Microtar, Miranda, Pita, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
GDB:265287  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,800,609 - 71,800,802UniSTSGRCh37
Build 36X71,717,334 - 71,717,527RGDNCBI36
CeleraX72,143,830 - 72,144,023RGD
Cytogenetic MapXq12-q13UniSTS
HuRefX65,555,185 - 65,555,378UniSTS
SHGC-84572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,915,041 - 71,915,284UniSTSGRCh37
Build 36X71,831,766 - 71,832,009RGDNCBI36
CeleraX72,258,760 - 72,259,003RGD
Cytogenetic MapXq12-q13UniSTS
HuRefX65,669,481 - 65,669,724UniSTS
TNG Radiation Hybrid MapX16369.0UniSTS
RH70895  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,933,446 - 71,933,590UniSTSGRCh37
GRCh37X71,933,446 - 71,933,511UniSTSGRCh37
Build 36X71,850,171 - 71,850,236RGDNCBI36
CeleraX72,277,166 - 72,277,231RGD
CeleraX72,277,166 - 72,277,308UniSTS
Cytogenetic MapXq12-q13UniSTS
HuRefX65,688,079 - 65,688,144UniSTS
HuRefX65,688,079 - 65,688,221UniSTS
GeneMap99-GB4 RH MapX240.89UniSTS
G31500  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,798,878 - 71,798,982UniSTSGRCh37
Build 36X71,715,603 - 71,715,707RGDNCBI36
CeleraX72,142,101 - 72,142,205RGD
Cytogenetic MapXq12-q13UniSTS
HuRefX65,553,384 - 65,553,488UniSTS
DXS8347  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,800,498 - 71,800,828UniSTSGRCh37
Build 36X71,717,223 - 71,717,553RGDNCBI36
CeleraX72,143,719 - 72,144,049RGD
Cytogenetic MapXq12-q13UniSTS
HuRefX65,555,074 - 65,555,404UniSTS
Whitehead-YAC Contig MapX UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
PHKA1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X71,800,859 - 71,801,013UniSTSGRCh37
CeleraX72,144,080 - 72,144,234UniSTS
HuRefX65,555,435 - 65,555,589UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
D1S1425  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map2p23-p22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic Map2p11.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map3q11.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map18p11.3-p11.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map15q11-q12UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map4q31.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map15q24-q25UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6q16UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic MapXq21.1UniSTS
RH46172  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq12-q13UniSTS
GeneMap99-GB4 RH MapX246.43UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 537 748 966 83 94 20 1199 1103 721 109 506 642 76 24 1039 2
Low 1890 1484 726 509 826 413 3132 1067 2997 307 951 962 98 1 1180 1749 3 2
Below cutoff 7 732 33 31 954 31 18 24 13 2 2 9

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122670 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001172436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002637 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006724661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327199 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001755696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC240504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW450116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BJ998054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX295541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX295542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647542 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471213 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA171597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA998603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR002787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73874 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X73878 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000339490   ⟹   ENSP00000342469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,578,815 - 72,714,181 (-)Ensembl
RefSeq Acc Id: ENST00000373539   ⟹   ENSP00000362640
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,580,627 - 72,714,258 (-)Ensembl
RefSeq Acc Id: ENST00000373542   ⟹   ENSP00000362643
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,578,814 - 72,714,306 (-)Ensembl
RefSeq Acc Id: ENST00000373545   ⟹   ENSP00000362646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,578,814 - 72,714,319 (-)Ensembl
RefSeq Acc Id: ENST00000541944   ⟹   ENSP00000441251
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX72,578,815 - 72,714,181 (-)Ensembl
RefSeq Acc Id: NM_001122670   ⟹   NP_001116142
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
GRCh37X71,798,664 - 71,934,029 (-)ENTREZGENE
HuRefX65,553,170 - 65,688,660 (-)ENTREZGENE
CHM1_1X71,691,651 - 71,827,294 (-)NCBI
T2T-CHM13v2.0X71,011,736 - 71,147,812 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001172436   ⟹   NP_001165907
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
GRCh37X71,798,664 - 71,934,029 (-)NCBI
HuRefX65,553,170 - 65,688,660 (-)ENTREZGENE
CHM1_1X71,691,651 - 71,827,294 (-)NCBI
T2T-CHM13v2.0X71,011,736 - 71,147,812 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002637   ⟹   NP_002628
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
GRCh37X71,798,664 - 71,934,029 (-)ENTREZGENE
Build 36X71,717,203 - 71,850,612 (-)NCBI Archive
HuRefX65,553,170 - 65,688,660 (-)ENTREZGENE
CHM1_1X71,691,651 - 71,827,294 (-)NCBI
T2T-CHM13v2.0X71,011,736 - 71,147,812 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006724661   ⟹   XP_006724724
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442160   ⟹   XP_047298116
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
RefSeq Acc Id: XM_047442161   ⟹   XP_047298117
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
RefSeq Acc Id: XM_047442162   ⟹   XP_047298118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,578,814 - 72,714,306 (-)NCBI
RefSeq Acc Id: XM_054327196   ⟹   XP_054183171
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBI
RefSeq Acc Id: XM_054327197   ⟹   XP_054183172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBI
RefSeq Acc Id: XM_054327198   ⟹   XP_054183173
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,011,736 - 71,147,812 (-)NCBI
RefSeq Acc Id: XM_054327199   ⟹   XP_054183174
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X71,011,736 - 71,147,907 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001165907   ⟸   NM_001172436
- Peptide Label: isoform 3
- UniProtKB: P46020 (UniProtKB/Swiss-Prot),   A6NIT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116142   ⟸   NM_001122670
- Peptide Label: isoform 2
- UniProtKB: P46020 (UniProtKB/Swiss-Prot),   A6NMN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_002628   ⟸   NM_002637
- Peptide Label: isoform 1
- UniProtKB: B7ZL07 (UniProtKB/Swiss-Prot),   B7ZL05 (UniProtKB/Swiss-Prot),   Q2M3D7 (UniProtKB/Swiss-Prot),   P46020 (UniProtKB/Swiss-Prot),   A6NMN0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006724724   ⟸   XM_006724661
- Peptide Label: isoform X3
- UniProtKB: A6NIT2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000441251   ⟸   ENST00000541944
RefSeq Acc Id: ENSP00000362640   ⟸   ENST00000373539
RefSeq Acc Id: ENSP00000362643   ⟸   ENST00000373542
RefSeq Acc Id: ENSP00000362646   ⟸   ENST00000373545
RefSeq Acc Id: ENSP00000342469   ⟸   ENST00000339490
RefSeq Acc Id: XP_047298118   ⟸   XM_047442162
- Peptide Label: isoform X4
- UniProtKB: A6NIT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298117   ⟸   XM_047442161
- Peptide Label: isoform X2
- UniProtKB: A6NMN0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047298116   ⟸   XM_047442160
- Peptide Label: isoform X1
- UniProtKB: P46020 (UniProtKB/Swiss-Prot),   B7ZL07 (UniProtKB/Swiss-Prot),   B7ZL05 (UniProtKB/Swiss-Prot),   Q2M3D7 (UniProtKB/Swiss-Prot),   A6NMN0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183174   ⟸   XM_054327199
- Peptide Label: isoform X4
- UniProtKB: A6NIT2 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183172   ⟸   XM_054327197
- Peptide Label: isoform X2
- UniProtKB: A6NMN0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183171   ⟸   XM_054327196
- Peptide Label: isoform X1
- UniProtKB: P46020 (UniProtKB/Swiss-Prot),   B7ZL07 (UniProtKB/Swiss-Prot),   B7ZL05 (UniProtKB/Swiss-Prot),   Q2M3D7 (UniProtKB/Swiss-Prot),   A6NMN0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054183173   ⟸   XM_054327198
- Peptide Label: isoform X3
- UniProtKB: A6NIT2 (UniProtKB/TrEMBL)
Protein Domains
GH15-like   Phosphorylase b kinase regulatory subunit alpha/beta

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P46020-F1-model_v2 AlphaFold P46020 1-1223 view protein structure

Promoters
RGD ID:6809130
Promoter ID:HG_KWN:67243
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000373539,   ENST00000373545,   NM_001122670,   NM_001172436,   NM_002637
Position:
Human AssemblyChrPosition (strand)Source
Build 36X71,850,651 - 71,851,151 (-)MPROMDB
RGD ID:13627456
Promoter ID:EPDNEW_H29003
Type:initiation region
Name:PHKA1_2
Description:phosphorylase kinase regulatory subunit alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29004  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,714,102 - 72,714,162EPDNEW
RGD ID:13627458
Promoter ID:EPDNEW_H29004
Type:initiation region
Name:PHKA1_1
Description:phosphorylase kinase regulatory subunit alpha 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29003  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X72,714,284 - 72,714,344EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:8925 AgrOrtholog
COSMIC PHKA1 COSMIC
Ensembl Genes ENSG00000067177 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000342469 ENTREZGENE
  ENSP00000342469.3 UniProtKB/Swiss-Prot
  ENSP00000362640.3 UniProtKB/TrEMBL
  ENSP00000362643 ENTREZGENE
  ENSP00000362643.4 UniProtKB/Swiss-Prot
  ENSP00000362646 ENTREZGENE
  ENSP00000362646.3 UniProtKB/TrEMBL
  ENSP00000441251 ENTREZGENE
  ENSP00000441251.1 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000339490 ENTREZGENE
  ENST00000339490.7 UniProtKB/Swiss-Prot
  ENST00000373539.3 UniProtKB/TrEMBL
  ENST00000373542 ENTREZGENE
  ENST00000373542.9 UniProtKB/Swiss-Prot
  ENST00000373545 ENTREZGENE
  ENST00000373545.7 UniProtKB/TrEMBL
  ENST00000541944 ENTREZGENE
  ENST00000541944.5 UniProtKB/Swiss-Prot
Gene3D-CATH 1.50.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000067177 GTEx
HGNC ID HGNC:8925 ENTREZGENE
Human Proteome Map PHKA1 Human Proteome Map
InterPro 6-hairpin_glycosidase_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6hp_glycosidase-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GH15-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KPBA/B_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PHK_A/B_su UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:5255 UniProtKB/Swiss-Prot
NCBI Gene 5255 ENTREZGENE
OMIM 311870 OMIM
PANTHER PHOSPHORYLASE B KINASE REGULATORY SUBUNIT ALPHA, SKELETAL MUSCLE ISOFORM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10749 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_hydro_15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KPBB_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33266 PharmGKB
Superfamily-SCOP SSF48208 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A6NIT2 ENTREZGENE, UniProtKB/TrEMBL
  A6NMN0 ENTREZGENE, UniProtKB/TrEMBL
  B7ZL05 ENTREZGENE
  B7ZL07 ENTREZGENE
  KPB1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q2M3D7 ENTREZGENE
UniProt Secondary B7ZL05 UniProtKB/Swiss-Prot
  B7ZL07 UniProtKB/Swiss-Prot
  Q2M3D7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-19 PHKA1  phosphorylase kinase regulatory subunit alpha 1    phosphorylase kinase, alpha 1 (muscle)  Symbol and/or name change 5135510 APPROVED