MAP3K15 (mitogen-activated protein kinase kinase kinase 15) - Rat Genome Database

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Gene: MAP3K15 (mitogen-activated protein kinase kinase kinase 15) Homo sapiens
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Symbol: MAP3K15
Name: mitogen-activated protein kinase kinase kinase 15
RGD ID: 1345894
HGNC Page HGNC:31689
Description: Enables MAP kinase kinase kinase activity. Predicted to be involved in JNK cascade and p38MAPK cascade.
Type: protein-coding
RefSeq Status: VALIDATED
Previously known as: apoptosis signal-regulating kinase 3; ASK3; bA723P2.3; FLJ16518; MAPK/ERK kinase kinase 15; MEK kinase 15; MEKK 15
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X19,360,059 - 19,515,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX19,360,056 - 19,515,508 (-)EnsemblGRCh38hg38GRCh38
GRCh37X19,378,177 - 19,533,626 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,288,095 - 19,410,315 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X19,137,830 - 19,260,051NCBI
CeleraX23,499,514 - 23,656,927 (-)NCBICelera
Cytogenetic MapXp22.12NCBI
HuRefX17,127,352 - 17,281,966 (-)NCBIHuRef
CHM1_1X19,409,233 - 19,563,759 (-)NCBICHM1_1
T2T-CHM13v2.0X18,942,795 - 19,098,393 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Autism  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:14702039   PMID:15146197   PMID:15772651   PMID:18029348   PMID:20362554   PMID:20562859   PMID:21873635   PMID:22939624   PMID:23250415   PMID:24981860   PMID:26186194   PMID:26344197  
PMID:26732173   PMID:28514442   PMID:29539411   PMID:31980649   PMID:32156783   PMID:33649309   PMID:33660365   PMID:33961781   PMID:35271311   PMID:36383675   PMID:36597993   PMID:37249651  


Genomics

Comparative Map Data
MAP3K15
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X19,360,059 - 19,515,508 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX19,360,056 - 19,515,508 (-)EnsemblGRCh38hg38GRCh38
GRCh37X19,378,177 - 19,533,626 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X19,288,095 - 19,410,315 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X19,137,830 - 19,260,051NCBI
CeleraX23,499,514 - 23,656,927 (-)NCBICelera
Cytogenetic MapXp22.12NCBI
HuRefX17,127,352 - 17,281,966 (-)NCBIHuRef
CHM1_1X19,409,233 - 19,563,759 (-)NCBICHM1_1
T2T-CHM13v2.0X18,942,795 - 19,098,393 (-)NCBIT2T-CHM13v2.0
Map3k15
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X158,771,200 - 158,906,342 (+)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX158,771,429 - 158,906,347 (+)EnsemblGRCm39 Ensembl
GRCm38X159,988,204 - 160,123,346 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX159,988,433 - 160,123,351 (+)EnsemblGRCm38mm10GRCm38
MGSCv37X156,426,365 - 156,561,283 (+)NCBIGRCm37MGSCv37mm9NCBIm37
CeleraX143,246,363 - 143,367,779 (+)NCBICelera
Cytogenetic MapXF4NCBI
cM MapX73.95NCBI
Map3k15
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8X38,522,143 - 38,667,746 (-)NCBIGRCr8
mRatBN7.2X34,713,150 - 34,859,054 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX34,713,175 - 34,858,807 (-)EnsemblmRatBN7.2 Ensembl
Rnor_6.0X37,342,251 - 37,755,373 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX37,643,169 - 37,705,263 (-)NCBIRnor6.0rn6Rnor6.0
Rnor_5.0X37,654,122 - 38,059,872 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X55,912,157 - 56,042,817 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
CeleraX35,385,725 - 35,526,200 (-)NCBICelera
Cytogenetic MapXq14NCBI
Map3k15
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555865,345 - 99,534 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555865,856 - 99,662 (+)NCBIChiLan1.0ChiLan1.0
MAP3K15
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2X21,160,443 - 21,315,845 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1X21,163,833 - 21,319,232 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X11,984,867 - 12,137,090 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X19,346,814 - 19,518,249 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX19,346,814 - 19,518,249 (-)Ensemblpanpan1.1panPan2
MAP3K15
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X15,353,081 - 15,465,862 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX15,353,081 - 15,465,992 (-)EnsemblCanFam3.1canFam3CanFam3.1
ROS_Cfam_1.0X15,301,710 - 15,425,913 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX15,312,525 - 15,426,249 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X15,362,476 - 15,474,546 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X15,364,256 - 15,476,439 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X15,419,523 - 15,543,818 (-)NCBIUU_Cfam_GSD_1.0
Map3k15
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X8,417,779 - 8,469,243 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936844905,658 - 956,879 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936844905,249 - 958,946 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MAP3K15
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX15,715,991 - 15,867,120 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X15,716,898 - 15,867,377 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X16,964,353 - 17,118,068 (-)NCBISscrofa10.2Sscrofa10.2susScr3
MAP3K15
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1X17,820,316 - 17,981,894 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 EnsemblX17,819,474 - 17,981,402 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605619,688,358 - 19,839,732 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Map3k15
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248294,169,717 - 4,318,578 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248294,169,679 - 4,318,966 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MAP3K15
209 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
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
NM_001001671.3(MAP3K15):c.2589+616C>T single nucleotide variant Lung cancer [RCV000102463] ChrX:19379504 [GRCh38]
ChrX:19397622 [GRCh37]
ChrX:Xp22.12		 uncertain significance
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: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)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 Xp22.13-22.12(chrX:18660565-19743908)x1 copy number loss See cases [RCV000051384] ChrX:18660565..19743908 [GRCh38]
ChrX:18678685..19762026 [GRCh37]
ChrX:18588606..19671947 [NCBI36]
ChrX:Xp22.13-22.12		 pathogenic|uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1 copy number loss See cases [RCV000051026] ChrX:10679..52809182 [GRCh38]
ChrX:60679..52838206 [GRCh37]
ChrX:679..52854931 [NCBI36]
ChrX:Xp22.33-11.22		 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: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 Xp22.33-11.3(chrX:675360-46016699)x3 copy number gain See cases [RCV000052328] ChrX:675360..46016699 [GRCh38]
ChrX:636095..45876134 [GRCh37]
ChrX:556095..45761078 [NCBI36]
ChrX:Xp22.33-11.3		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1 copy number loss See cases [RCV000052981] ChrX:10679..48344725 [GRCh38]
ChrX:60679..48204160 [GRCh37]
ChrX:679..48089104 [NCBI36]
ChrX:Xp22.33-11.23		 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 Xp22.33-11.21(chrX:26102-57302794)x1 copy number loss See cases [RCV000052990] ChrX:26102..57302794 [GRCh38]
ChrX:76102..57329227 [GRCh37]
ChrX:16102..57345952 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1 copy number loss See cases [RCV000053007] ChrX:2769041..58055036 [GRCh38]
ChrX:2687082..58081470 [GRCh37]
ChrX:2697082..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.33-22.11(chrX:253129-23023165)x1 copy number loss See cases [RCV000052993] ChrX:253129..23023165 [GRCh38]
ChrX:169796..23041282 [GRCh37]
ChrX:109796..22951203 [NCBI36]
ChrX:Xp22.33-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1 copy number loss See cases [RCV000052994] ChrX:253129..58271563 [GRCh38]
ChrX:169796..58297997 [GRCh37]
ChrX:109796..58314722 [NCBI36]
ChrX:Xp22.33-11.1		 pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]|See cases [RCV000052970] ChrX:10679..21811030 [GRCh38]
ChrX:60679..21829148 [GRCh37]
ChrX:679..21739069 [NCBI36]
ChrX:Xp22.33-22.12		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]|See cases [RCV000052971] ChrX:10679..55550898 [GRCh38]
ChrX:60679..55577331 [GRCh37]
ChrX:679..55594056 [NCBI36]
ChrX:Xp22.33-11.21		 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
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3 copy number gain See cases [RCV000053817] ChrX:10479..54179172 [GRCh38]
ChrX:60479..53957191 [GRCh37]
ChrX:479..54222330 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
NM_001001671.3(MAP3K15):c.2763C>A (p.Phe921Leu) single nucleotide variant Malignant melanoma [RCV000073146] ChrX:19374487 [GRCh38]
ChrX:19392605 [GRCh37]
ChrX:19302526 [NCBI36]
ChrX:Xp22.12		 not provided
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3 copy number gain See cases [RCV000239834] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
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 Xp22.33-11.22(chrX:10701-52857805)x1 copy number loss See cases [RCV000133817] ChrX:10701..52857805 [GRCh38]
ChrX:60701..52886834 [GRCh37]
ChrX:701..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 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: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: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)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: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 Xp22.33-11.23(chrX:10679-50059388)x1 copy number loss See cases [RCV000133745] ChrX:10679..50059388 [GRCh38]
ChrX:60679..49824045 [GRCh37]
ChrX:679..49710785 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
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
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1 copy number loss See cases [RCV000134568] ChrX:10701..62712219 [GRCh38]
ChrX:60701..61931689 [GRCh37]
ChrX:701..61848414 [NCBI36]
ChrX:Xp22.33-q11.1		 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 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 Xp22.33-11.21(chrX:10701-58055053)x1 copy number loss See cases [RCV000134026] ChrX:10701..58055053 [GRCh38]
ChrX:60701..58081487 [GRCh37]
ChrX:701..58098212 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1 copy number loss See cases [RCV000135299] ChrX:233335..37292980 [GRCh38]
ChrX:150002..37152232 [GRCh37]
ChrX:90002..37037153 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1 copy number loss See cases [RCV000135305] ChrX:8176030..53962833 [GRCh38]
ChrX:8144071..53989266 [GRCh37]
ChrX:8104071..54005991 [NCBI36]
ChrX:Xp22.31-11.22		 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 Xp22.2-22.11(chrX:15173626-23952585)x2 copy number gain See cases [RCV000134875] ChrX:15173626..23952585 [GRCh38]
ChrX:15191748..23970702 [GRCh37]
ChrX:15101669..23880623 [NCBI36]
ChrX:Xp22.2-22.11		 pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3 copy number gain See cases [RCV000134957] ChrX:10679..52857805 [GRCh38]
ChrX:60679..52886834 [GRCh37]
ChrX:679..52903559 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1 copy number loss See cases [RCV000135551] ChrX:10679..36186635 [GRCh38]
ChrX:60679..36202463 [GRCh37]
ChrX:679..36114673 [NCBI36]
ChrX:Xp22.33-21.1		 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 Xp22.33-11.22(chrX:10679-52213731)x1 copy number loss See cases [RCV000137112] ChrX:10679..52213731 [GRCh38]
ChrX:60679..51948998 [GRCh37]
ChrX:679..51973598 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic|uncertain significance
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 Xp22.33-11.22(chrX:10701-52033734)x1 copy number loss See cases [RCV000137430] ChrX:10701..52033734 [GRCh38]
ChrX:60701..51776830 [GRCh37]
ChrX:701..51793570 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1 copy number loss See cases [RCV000137552] ChrX:10701..58055036 [GRCh38]
ChrX:60701..58081470 [GRCh37]
ChrX:701..58098195 [NCBI36]
ChrX:Xp22.33-11.21		 pathogenic
GRCh38/hg38 Xp22.13-22.12(chrX:19073372-19743908)x2 copy number gain See cases [RCV000137714] ChrX:19073372..19743908 [GRCh38]
ChrX:19091490..19762026 [GRCh37]
ChrX:19001411..19671947 [NCBI36]
ChrX:Xp22.13-22.12		 uncertain significance
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3 copy number gain See cases [RCV000137383] ChrX:10701..21866242 [GRCh38]
ChrX:60701..21884360 [GRCh37]
ChrX:701..21794281 [NCBI36]
ChrX:Xp22.33-22.12		 uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1 copy number loss See cases [RCV000137413] ChrX:10701..49071220 [GRCh38]
ChrX:60701..48928877 [GRCh37]
ChrX:701..48815821 [NCBI36]
ChrX:Xp22.33-11.23		 pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1 copy number loss See cases [RCV000137166] ChrX:10679..49157514 [GRCh38]
ChrX:60679..49016667 [GRCh37]
ChrX:679..48903611 [NCBI36]
ChrX:Xp22.33-11.23		 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 Xp22.2-21.2(chrX:12254555-30410580)x1 copy number loss See cases [RCV000138069] ChrX:12254555..30410580 [GRCh38]
ChrX:12272674..30428697 [GRCh37]
ChrX:12182595..30338618 [NCBI36]
ChrX:Xp22.2-21.2		 pathogenic|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1 copy number loss See cases [RCV000138019] ChrX:10701..37723318 [GRCh38]
ChrX:60701..37318587 [GRCh37]
ChrX:701..37467510 [NCBI36]
ChrX:Xp22.33-21.1		 pathogenic
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 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 Xp22.33-11.1(chrX:10701-58517661)x1 copy number loss See cases [RCV000139343] ChrX:10701..58517661 [GRCh38]
ChrX:60701..58544094 [GRCh37]
ChrX:701..58560819 [NCBI36]
ChrX:Xp22.33-11.1		 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-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 Xp22.33-11.4(chrX:3909315-38682287)x3 copy number gain See cases [RCV000141261] ChrX:3909315..38682287 [GRCh38]
ChrX:3827356..38541541 [GRCh37]
ChrX:3837356..38426485 [NCBI36]
ChrX:Xp22.33-11.4		 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
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 Xp22.33-11.22(chrX:10701-53750424)x1 copy number loss See cases [RCV000140711] ChrX:10701..53750424 [GRCh38]
ChrX:60701..53776922 [GRCh37]
ChrX:701..53793647 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.22(chrX:251879-50289363)x1 copy number loss See cases [RCV000141741] ChrX:251879..50289363 [GRCh38]
ChrX:168546..50032363 [GRCh37]
ChrX:108546..50049103 [NCBI36]
ChrX:Xp22.33-11.22		 pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1 copy number loss See cases [RCV000142334] ChrX:251880..66445845 [GRCh38]
ChrX:168547..65665687 [GRCh37]
ChrX:108547..65582412 [NCBI36]
ChrX:Xp22.33-q12		 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 Xp22.33-11.22(chrX:251880-51643625)x1 copy number loss See cases [RCV000142035] ChrX:251880..51643625 [GRCh38]
ChrX:168547..51386559 [GRCh37]
ChrX:108547..51403299 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.22(chrX:10701-53131191)x1 copy number loss See cases [RCV000143348] ChrX:10701..53131191 [GRCh38]
ChrX:60701..53047381 [GRCh37]
ChrX:701..53177098 [NCBI36]
ChrX:Xp22.33-11.22		 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 Xp22.33-11.21(chrX:251879-56428859)x1 copy number loss See cases [RCV000143130] ChrX:251879..56428859 [GRCh38]
ChrX:168546..56455292 [GRCh37]
ChrX:108546..56472017 [NCBI36]
ChrX:Xp22.33-11.21		 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 Xp22.2-22.12(chrX:12856740-19380317)x2 copy number gain See cases [RCV000143774] ChrX:12856740..19380317 [GRCh38]
ChrX:12874859..19398435 [GRCh37]
ChrX:12784780..19308356 [NCBI36]
ChrX:Xp22.2-22.12		 likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1 copy number loss See cases [RCV000143496] ChrX:251879..35885004 [GRCh38]
ChrX:168546..35903121 [GRCh37]
ChrX:108546..35813042 [NCBI36]
ChrX:Xp22.33-21.1		 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
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
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 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1 copy number loss See cases [RCV000239814] ChrX:70297..58066465 [GRCh37]
ChrX:Xp22.33-11.21		 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
NM_001001671.4(MAP3K15):c.3597_3600del (p.Arg1199fs) microsatellite not specified [RCV000238953] ChrX:19362817..19362820 [GRCh38]
ChrX:19380935..19380938 [GRCh37]
ChrX:Xp22.12		 uncertain significance
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:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [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 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28		 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
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1 copy number loss See cases [RCV000240335] ChrX:71267..35809046 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2 copy number gain See cases [RCV000240441] ChrX:1378591..25940311 [GRCh37]
ChrX:Xp22.33-21.3		 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
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
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392) copy number gain not provided [RCV000767802] ChrX:801301..23768392 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
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 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3 copy number gain See cases [RCV000449393] ChrX:168546..43917011 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1 copy number loss See cases [RCV000446584] ChrX:168546..55529093 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1 copy number loss See cases [RCV000447092] ChrX:168546..56684082 [GRCh37]
ChrX:Xp22.33-11.21		 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 Xp22.33-11.22(chrX:168546-52573789)x1 copy number loss See cases [RCV000447470] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 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 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
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_001001671.4(MAP3K15):c.2803C>T (p.Pro935Ser) single nucleotide variant not specified [RCV000432684] ChrX:19373666 [GRCh38]
ChrX:19391784 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_000284.4(PDHA1):c.*1869G>C single nucleotide variant MAP3K15-related disorder [RCV003922687]|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166981]|not provided [RCV000430059] ChrX:19361522 [GRCh38]
ChrX:19361522..19361523 [GRCh38]
ChrX:19379640 [GRCh37]
ChrX:19379640..19379641 [GRCh37]
ChrX:Xp22.12		 benign
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 Xp22.33-11.1(chrX:168546-58140271)x1 copy number loss See cases [RCV000447773] ChrX:168546..58140271 [GRCh37]
ChrX:Xp22.33-11.1		 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
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1 copy number loss See cases [RCV000512136] ChrX:168546..55240087 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1 copy number loss See cases [RCV000510590] ChrX:168546..37515849 [GRCh37]
ChrX:Xp22.33-21.1		 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
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1 copy number loss See cases [RCV000510308] ChrX:168546..35841052 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
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 Xp22.33-11.1(chrX:168546-58527164)x1 copy number loss See cases [RCV000510437] ChrX:168546..58527164 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1 copy number loss See cases [RCV000511615] ChrX:168546..57504183 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1 copy number loss See cases [RCV000512022] ChrX:168546..57683964 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1 copy number loss See cases [RCV000511350] ChrX:168546..31085327 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2 copy number gain See cases [RCV000511443] ChrX:15290524..29747172 [GRCh37]
ChrX:Xp22.2-21.2		 likely pathogenic
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 Xp22.33-11.21(chrX:168546-54996659)x1 copy number loss See cases [RCV000510822] ChrX:168546..54996659 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001001671.4(MAP3K15):c.1477C>T (p.Arg493Trp) single nucleotide variant not specified [RCV004321296] ChrX:19415220 [GRCh38]
ChrX:19433338 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*1193CA[1] microsatellite not provided [RCV000513956] ChrX:19360845..19360846 [GRCh38]
ChrX:19378963..19378964 [GRCh37]
ChrX:Xp22.12		 likely benign
GRCh37/hg19 Xp22.13-22.12(chrX:19030055-19591281) copy number gain Torticollis [RCV000626551] ChrX:19030055..19591281 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.930G>A (p.Met310Ile) single nucleotide variant not specified [RCV004321297] ChrX:19456978 [GRCh38]
ChrX:19475096 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3 copy number gain See cases [RCV000512204] ChrX:168546..24780527 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
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
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1 copy number loss See cases [RCV000512339] ChrX:168564..57413442 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3 copy number gain not provided [RCV000684187] ChrX:201704..20682168 [GRCh37]
ChrX:Xp22.33-22.12		 pathogenic
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 Xp22.33-22.11(chrX:168546-23785738)x1 copy number loss not provided [RCV000684183] ChrX:168546..23785738 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1 copy number loss not provided [RCV000684184] ChrX:168546..43248706 [GRCh37]
ChrX:Xp22.33-11.3		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1 copy number loss not provided [RCV000684185] ChrX:168546..46908284 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1 copy number loss not provided [RCV000753275] ChrX:60814..55476165 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1 copy number loss not provided [RCV000753273] ChrX:60814..48317386 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1 copy number loss not provided [RCV000753274] ChrX:60814..51821765 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.12(chrX:19465730-19478043)x0 copy number loss not provided [RCV000753412] ChrX:19465730..19478043 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.12(chrX:19466080-19478043)x0 copy number loss not provided [RCV000753413] ChrX:19466080..19478043 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.12(chrX:19466080-19479790)x0 copy number loss not provided [RCV000753414] ChrX:19466080..19479790 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.12(chrX:19515847-19825756)x2 copy number gain not provided [RCV000753415] ChrX:19515847..19825756 [GRCh37]
ChrX:Xp22.12		 benign
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
Single allele duplication Autism [RCV000754363] ChrX:10000..22474705 [GRCh38]
ChrX:Xp22.33-22.11		 likely 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
NM_001001671.4(MAP3K15):c.3906G>C (p.Arg1302Ser) single nucleotide variant not provided [RCV003312102]|not specified [RCV004300554] ChrX:19360785 [GRCh38]
ChrX:19378903 [GRCh37]
ChrX:Xp22.12		 likely benign|uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1 copy number loss not provided [RCV001007223] ChrX:537158..22883547 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
NM_000284.4(PDHA1):c.*1624T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166452] ChrX:19361277 [GRCh38]
ChrX:19379395 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*1926G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166982] ChrX:19361579 [GRCh38]
ChrX:19379697 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_000284.4(PDHA1):c.*1450C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166448] ChrX:19361103 [GRCh38]
ChrX:19379221 [GRCh37]
ChrX:Xp22.12		 benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1 copy number loss not provided [RCV001007224] ChrX:539722..55509385 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001001671.4(MAP3K15):c.1363G>A (p.Val455Ile) single nucleotide variant MAP3K15-related disorder [RCV003918462]|not provided [RCV000971347] ChrX:19425607 [GRCh38]
ChrX:19443725 [GRCh37]
ChrX:Xp22.12		 likely benign
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1 copy number loss See cases [RCV000790583] ChrX:60814..50519984 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3 copy number gain not provided [RCV000849574] ChrX:2190434..23795839 [GRCh37]
ChrX:Xp22.33-22.11		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849766] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2 copy number gain not provided [RCV000849768] ChrX:13962918..22148232 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
NM_000284.4(PDHA1):c.*525C>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166918] ChrX:19360178 [GRCh38]
ChrX:19378296 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1059G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169392]|not provided [RCV004714207] ChrX:19360712 [GRCh38]
ChrX:19378830 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1208A>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169393]|not provided [RCV004714208] ChrX:19360861 [GRCh38]
ChrX:19378979 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1376C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166445] ChrX:19361029 [GRCh38]
ChrX:19379147 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-22.12(chrX:1240318-20986848)x2 copy number gain not provided [RCV001007235] ChrX:1240318..20986848 [GRCh37]
ChrX:Xp22.33-22.12		 pathogenic
NM_000284.4(PDHA1):c.*1394C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166447]|not provided [RCV004714196] ChrX:19361047 [GRCh38]
ChrX:19379165 [GRCh37]
ChrX:Xp22.12		 benign
Single allele deletion Neurodevelopmental disorder [RCV000787440] ChrX:1..47140860 [GRCh37]
ChrX:Xp22.33-11.23		 pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2 copy number gain not provided [RCV000846517] ChrX:15330714..21915234 [GRCh37]
ChrX:Xp22.2-22.11		 pathogenic
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1 copy number loss not provided [RCV000845671] ChrX:168546..38054739 [GRCh37]
ChrX:Xp22.33-11.4		 pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19258311-20193960)x2 copy number gain not provided [RCV000845973] ChrX:19258311..20193960 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1 copy number loss not provided [RCV000846273] ChrX:168546..61877279 [GRCh37]
ChrX:Xp22.33-q11.1		 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
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_000284.4(PDHA1):c.*864G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169390] ChrX:19360517 [GRCh38]
ChrX:19378635 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1013C>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169391]|not provided [RCV004714206] ChrX:19360666 [GRCh38]
ChrX:19378784 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1345A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169396] ChrX:19360998 [GRCh38]
ChrX:19379116 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1347C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169397] ChrX:19361000 [GRCh38]
ChrX:19379118 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.596G>A (p.Ser199Asn) single nucleotide variant MAP3K15-related disorder [RCV003925921]|not provided [RCV000950031] ChrX:19464336 [GRCh38]
ChrX:19482454 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1458C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166449] ChrX:19361111 [GRCh38]
ChrX:19379229 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*1563C>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166450] ChrX:19361216 [GRCh38]
ChrX:19379334 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*575T>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168626]|not provided [RCV003438708] ChrX:19360228 [GRCh38]
ChrX:19378346 [GRCh37]
ChrX:Xp22.12		 likely benign|uncertain significance
NM_000284.4(PDHA1):c.*1377G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166446]|not provided [RCV004714195] ChrX:19361030 [GRCh38]
ChrX:19379148 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1598G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166451]|not provided [RCV004714197] ChrX:19361251 [GRCh38]
ChrX:19379369 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1682T>C single nucleotide variant MAP3K15-related disorder [RCV003963105]|Pyruvate dehydrogenase E1-alpha deficiency [RCV001166979]|not provided [RCV004714202] ChrX:19361335 [GRCh38]
ChrX:19379453 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1779A>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166980] ChrX:19361432 [GRCh38]
ChrX:19379550 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*707G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168628] ChrX:19360360 [GRCh38]
ChrX:19378478 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*729G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168630] ChrX:19360382 [GRCh38]
ChrX:19378500 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*614G>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168627]|not provided [RCV004714203] ChrX:19360267 [GRCh38]
ChrX:19378385 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*857A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168632] ChrX:19360510 [GRCh38]
ChrX:19378628 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1297G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169394] ChrX:19360950 [GRCh38]
ChrX:19379068 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.2-22.12(chrX:16194993-20640014)x2 copy number gain not provided [RCV001007268] ChrX:16194993..20640014 [GRCh37]
ChrX:Xp22.2-22.12		 pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19167477-19595672)x3 copy number gain not provided [RCV001007270] ChrX:19167477..19595672 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1 copy number loss not provided [RCV001007559] ChrX:168546..34753512 [GRCh37]
ChrX:Xp22.33-21.1		 pathogenic
NM_000284.4(PDHA1):c.*549A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168625]|not provided [RCV002512142] ChrX:19360202 [GRCh38]
ChrX:19378320 [GRCh37]
ChrX:Xp22.12		 likely benign|uncertain significance
NM_000284.4(PDHA1):c.*728C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168629]|not provided [RCV004714204] ChrX:19360381 [GRCh38]
ChrX:19378499 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*844A>G single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001168631]|not provided [RCV004714205] ChrX:19360497 [GRCh38]
ChrX:19378615 [GRCh37]
ChrX:Xp22.12		 benign
NM_000284.4(PDHA1):c.*1306G>A single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001169395] ChrX:19360959 [GRCh38]
ChrX:19379077 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*432C>T single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV001166917]|not provided [RCV003438702] ChrX:19360085 [GRCh38]
ChrX:19378203 [GRCh37]
ChrX:Xp22.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001001671.4(MAP3K15):c.2325+1G>T single nucleotide variant Neurodevelopmental disorder [RCV001262716] ChrX:19392342 [GRCh38]
ChrX:19410460 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1 copy number loss See cases [RCV001263061] ChrX:219609..55466476 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:18582617-19417295)x3 copy number gain not provided [RCV001259459] ChrX:18582617..19417295 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NC_000023.10:g.(?_19362156)_(19764579_?)dup duplication Pyruvate dehydrogenase E1-alpha deficiency [RCV001908087] ChrX:19362156..19764579 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NC_000023.10:g.(?_17393881)_(20284750_?)dup duplication Coffin-Lowry syndrome [RCV003120571]|Developmental and epileptic encephalopathy, 2 [RCV001345684]|Glycogen storage disease IXa1 [RCV003106199]|Nance-Horan syndrome [RCV003120573]|not provided [RCV003120572] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance|no classifications from unflagged records
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1 copy number loss not provided [RCV001281358] ChrX:168546..56457794 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
GRCh37/hg19 Xp22.13-22.12(chrX:19183657-20215858) copy number gain Unilateral renal agenesis [RCV001291960] ChrX:19183657..20215858 [GRCh37]
ChrX:Xp22.13-22.12		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 copy number loss not provided [RCV001537933] ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
Single allele complex Turner syndrome [RCV002280670] ChrX:590376..56315041 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_000284.4(PDHA1):c.*1721C>G single nucleotide variant not provided [RCV001756764] ChrX:19361374 [GRCh38]
ChrX:19379492 [GRCh37]
ChrX:Xp22.12		 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
GRCh37/hg19 Xp22.13-22.12(chrX:18645361-19678763) copy number loss not specified [RCV002052786] ChrX:18645361..19678763 [GRCh37]
ChrX:Xp22.13-22.12		 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_000284.4(PDHA1):c.*1908G>A single nucleotide variant not provided [RCV002223728] ChrX:19361561 [GRCh38]
ChrX:19379679 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NC_000023.10:g.(?_18525053)_(20284750_?)del deletion not provided [RCV003122822] ChrX:18525053..20284750 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
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
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) copy number gain Klinefelter syndrome [RCV003236730] ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) copy number loss Turner syndrome [RCV002280668] ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304) copy number loss Turner syndrome [RCV002280671] ChrX:168546..57841304 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001001671.4(MAP3K15):c.3781-7G>C single nucleotide variant Pyruvate dehydrogenase E1-alpha deficiency [RCV002266736] ChrX:19361422 [GRCh38]
ChrX:19379540 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 copy number gain Klinefelter syndrome [RCV002282732] ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28		 pathogenic
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 Xp22.33-11.22(chrX:168546-52573789) copy number loss Turner syndrome [RCV002280669] ChrX:168546..52573789 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
NM_001001671.4(MAP3K15):c.205G>A (p.Glu69Lys) single nucleotide variant not specified [RCV004330848] ChrX:19515057 [GRCh38]
ChrX:19533175 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:18714973-19497755)x3 copy number gain not provided [RCV002473756] ChrX:18714973..19497755 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2753G>A (p.Arg918Gln) single nucleotide variant not specified [RCV004158876] ChrX:19374497 [GRCh38]
ChrX:19392615 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2830A>G (p.Ser944Gly) single nucleotide variant not specified [RCV004138784] ChrX:19373639 [GRCh38]
ChrX:19391757 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2791G>A (p.Val931Ile) single nucleotide variant not specified [RCV004165420] ChrX:19373678 [GRCh38]
ChrX:19391796 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2667C>G (p.Phe889Leu) single nucleotide variant not specified [RCV004126095] ChrX:19374583 [GRCh38]
ChrX:19392701 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2549C>T (p.Pro850Leu) single nucleotide variant MAP3K15-related disorder [RCV003946367]|not specified [RCV004108291] ChrX:19380160 [GRCh38]
ChrX:19398278 [GRCh37]
ChrX:Xp22.12		 likely benign|uncertain significance
NM_001001671.4(MAP3K15):c.1661G>A (p.Arg554Lys) single nucleotide variant not specified [RCV004220087] ChrX:19413394 [GRCh38]
ChrX:19431512 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.13-22.12(chrX:19053971-19678692)x3 copy number gain not provided [RCV002475773] ChrX:19053971..19678692 [GRCh37]
ChrX:Xp22.13-22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3049A>G (p.Lys1017Glu) single nucleotide variant not specified [RCV004127348] ChrX:19372712 [GRCh38]
ChrX:19390830 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1654G>A (p.Glu552Lys) single nucleotide variant not specified [RCV004220126] ChrX:19413401 [GRCh38]
ChrX:19431519 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.970T>C (p.Phe324Leu) single nucleotide variant not specified [RCV004147763] ChrX:19456938 [GRCh38]
ChrX:19475056 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2243C>T (p.Pro748Leu) single nucleotide variant not specified [RCV004159166] ChrX:19392425 [GRCh38]
ChrX:19410543 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.865C>T (p.Leu289Phe) single nucleotide variant not specified [RCV004109858] ChrX:19460008 [GRCh38]
ChrX:19478126 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1133A>G (p.Lys378Arg) single nucleotide variant not specified [RCV004111862] ChrX:19431471 [GRCh38]
ChrX:19449589 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2491C>A (p.Pro831Thr) single nucleotide variant not specified [RCV004139029] ChrX:19380218 [GRCh38]
ChrX:19398336 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.128G>A (p.Gly43Asp) single nucleotide variant not specified [RCV004097630] ChrX:19515134 [GRCh38]
ChrX:19533252 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1919G>C (p.Gly640Ala) single nucleotide variant not specified [RCV004111970] ChrX:19400589 [GRCh38]
ChrX:19418707 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1761T>G (p.Phe587Leu) single nucleotide variant not specified [RCV004170055] ChrX:19407271 [GRCh38]
ChrX:19425389 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1503A>C (p.Glu501Asp) single nucleotide variant not specified [RCV004193429] ChrX:19415194 [GRCh38]
ChrX:19433312 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1882G>A (p.Ala628Thr) single nucleotide variant not specified [RCV004225720] ChrX:19400626 [GRCh38]
ChrX:19418744 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.419T>C (p.Leu140Pro) single nucleotide variant not specified [RCV004240676] ChrX:19488910 [GRCh38]
ChrX:19507028 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.416A>G (p.His139Arg) single nucleotide variant not specified [RCV004238052] ChrX:19488913 [GRCh38]
ChrX:19507031 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1543A>G (p.Ile515Val) single nucleotide variant not specified [RCV004230219] ChrX:19415154 [GRCh38]
ChrX:19433272 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2947A>G (p.Ser983Gly) single nucleotide variant not specified [RCV004204212] ChrX:19372814 [GRCh38]
ChrX:19390932 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2261C>G (p.Thr754Ser) single nucleotide variant not specified [RCV004135395] ChrX:19392407 [GRCh38]
ChrX:19410525 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1651G>T (p.Ala551Ser) single nucleotide variant not specified [RCV004164267] ChrX:19413404 [GRCh38]
ChrX:19431522 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.964A>G (p.Ile322Val) single nucleotide variant not specified [RCV004244442] ChrX:19456944 [GRCh38]
ChrX:19475062 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1285C>G (p.Arg429Gly) single nucleotide variant not specified [RCV004225797] ChrX:19425685 [GRCh38]
ChrX:19443803 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3690G>C (p.Glu1230Asp) single nucleotide variant not specified [RCV004096466] ChrX:19361583 [GRCh38]
ChrX:19379701 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1285C>T (p.Arg429Trp) single nucleotide variant not specified [RCV004156572] ChrX:19425685 [GRCh38]
ChrX:19443803 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2158G>A (p.Gly720Ser) single nucleotide variant not specified [RCV004115740] ChrX:19395117 [GRCh38]
ChrX:19413235 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.442A>G (p.Met148Val) single nucleotide variant not specified [RCV004206276] ChrX:19488887 [GRCh38]
ChrX:19507005 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1508C>T (p.Ser503Leu) single nucleotide variant not specified [RCV004195707] ChrX:19415189 [GRCh38]
ChrX:19433307 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.206A>C (p.Glu69Ala) single nucleotide variant not specified [RCV004132109] ChrX:19515056 [GRCh38]
ChrX:19533174 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1562A>G (p.Asn521Ser) single nucleotide variant not specified [RCV004126260] ChrX:19415135 [GRCh38]
ChrX:19433253 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1888A>T (p.Ser630Cys) single nucleotide variant not specified [RCV004194715] ChrX:19400620 [GRCh38]
ChrX:19418738 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.199C>A (p.Arg67Ser) single nucleotide variant not specified [RCV004140995] ChrX:19515063 [GRCh38]
ChrX:19533181 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.251G>C (p.Arg84Pro) single nucleotide variant not specified [RCV004092805] ChrX:19515011 [GRCh38]
ChrX:19533129 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3217A>G (p.Lys1073Glu) single nucleotide variant not specified [RCV004075673] ChrX:19371422 [GRCh38]
ChrX:19389540 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2293C>T (p.His765Tyr) single nucleotide variant not specified [RCV004119996] ChrX:19392375 [GRCh38]
ChrX:19410493 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1299G>C (p.Leu433Phe) single nucleotide variant not specified [RCV004182999] ChrX:19425671 [GRCh38]
ChrX:19443789 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1139A>G (p.Asp380Gly) single nucleotide variant not provided [RCV003435954]|not specified [RCV004215788] ChrX:19431465 [GRCh38]
ChrX:19449583 [GRCh37]
ChrX:Xp22.12		 likely benign|uncertain significance
NM_001001671.4(MAP3K15):c.1400A>T (p.Gln467Leu) single nucleotide variant not specified [RCV004938823] ChrX:19425570 [GRCh38]
ChrX:19443688 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2359G>A (p.Val787Met) single nucleotide variant not specified [RCV004938807] ChrX:19392074 [GRCh38]
ChrX:19410192 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1192T>C (p.Ser398Pro) single nucleotide variant not specified [RCV004938806] ChrX:19426318 [GRCh38]
ChrX:19444436 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.337G>A (p.Val113Met) single nucleotide variant not specified [RCV004938824] ChrX:19514925 [GRCh38]
ChrX:19533043 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1135G>A (p.Asp379Asn) single nucleotide variant not specified [RCV004938821] ChrX:19431469 [GRCh38]
ChrX:19449587 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2062A>G (p.Ser688Gly) single nucleotide variant not specified [RCV004938804] ChrX:19398230 [GRCh38]
ChrX:19416348 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.884T>A (p.Ile295Asn) single nucleotide variant not specified [RCV004938832] ChrX:19459989 [GRCh38]
ChrX:19478107 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3365G>A (p.Arg1122Gln) single nucleotide variant not specified [RCV004938826] ChrX:19370994 [GRCh38]
ChrX:19389112 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.805C>T (p.Arg269Trp) single nucleotide variant not specified [RCV004938827] ChrX:19460068 [GRCh38]
ChrX:19478186 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2009G>A (p.Arg670Gln) single nucleotide variant not specified [RCV004938833] ChrX:19398283 [GRCh38]
ChrX:19416401 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2899C>T (p.Arg967Trp) single nucleotide variant not specified [RCV004219564] ChrX:19373570 [GRCh38]
ChrX:19391688 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3178C>T (p.Arg1060Cys) single nucleotide variant not specified [RCV004074515] ChrX:19371461 [GRCh38]
ChrX:19389579 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3379G>A (p.Ala1127Thr) single nucleotide variant not specified [RCV004079089] ChrX:19370980 [GRCh38]
ChrX:19389098 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.698A>C (p.Lys233Thr) single nucleotide variant not specified [RCV004081961] ChrX:19464234 [GRCh38]
ChrX:19482352 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.462G>T (p.Leu154Phe) single nucleotide variant MAP3K15-related disorder [RCV003395640]|not specified [RCV004098626] ChrX:19488867 [GRCh38]
ChrX:19506985 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1328T>G (p.Met443Arg) single nucleotide variant not specified [RCV004299721] ChrX:19425642 [GRCh38]
ChrX:19443760 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1502A>G (p.Glu501Gly) single nucleotide variant not specified [RCV004275222] ChrX:19415195 [GRCh38]
ChrX:19433313 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.188C>A (p.Ala63Glu) single nucleotide variant not specified [RCV004272220] ChrX:19515074 [GRCh38]
ChrX:19533192 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.901A>T (p.Met301Leu) single nucleotide variant not specified [RCV004275974] ChrX:19457007 [GRCh38]
ChrX:19475125 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3496G>A (p.Gly1166Ser) single nucleotide variant not specified [RCV004280997] ChrX:19369124 [GRCh38]
ChrX:19387242 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.217G>T (p.Gly73Cys) single nucleotide variant not specified [RCV004353981] ChrX:19515045 [GRCh38]
ChrX:19533163 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3118G>C (p.Glu1040Gln) single nucleotide variant not specified [RCV004357313] ChrX:19371521 [GRCh38]
ChrX:19389639 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3686C>G (p.Thr1229Arg) single nucleotide variant MAP3K15-related disorder [RCV003393082] ChrX:19361587 [GRCh38]
ChrX:19379705 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1403C>T (p.Ala468Val) single nucleotide variant not specified [RCV004352603] ChrX:19425567 [GRCh38]
ChrX:19443685 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3353A>T (p.Asn1118Ile) single nucleotide variant not specified [RCV004338458] ChrX:19371006 [GRCh38]
ChrX:19389124 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1892C>T (p.Thr631Met) single nucleotide variant not specified [RCV004361842] ChrX:19400616 [GRCh38]
ChrX:19418734 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2387C>T (p.Ser796Leu) single nucleotide variant not specified [RCV004345752] ChrX:19392046 [GRCh38]
ChrX:19410164 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3 copy number gain not provided [RCV003485279] ChrX:18411391..22528403 [GRCh37]
ChrX:Xp22.13-22.11		 uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1 copy number loss not provided [RCV003483407] ChrX:2696762..53113314 [GRCh37]
ChrX:Xp22.33-11.22		 pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2 copy number gain not provided [RCV003483939] ChrX:168547..30774453 [GRCh37]
ChrX:Xp22.33-21.2		 pathogenic
NM_001001671.4(MAP3K15):c.884T>G (p.Ile295Ser) single nucleotide variant MAP3K15-related disorder [RCV003399615] ChrX:19459989 [GRCh38]
ChrX:19478107 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_000284.4(PDHA1):c.*1302G>A single nucleotide variant not provided [RCV003441114] ChrX:19360955 [GRCh38]
ChrX:19379073 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.3750G>A (p.Leu1250=) single nucleotide variant not provided [RCV003441115] ChrX:19361523 [GRCh38]
ChrX:19379641 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2984C>T (p.Pro995Leu) single nucleotide variant not provided [RCV003441118] ChrX:19372777 [GRCh38]
ChrX:19390895 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2208T>C (p.Ala736=) single nucleotide variant not provided [RCV003441119] ChrX:19392460 [GRCh38]
ChrX:19410578 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.3249G>A (p.Ser1083=) single nucleotide variant not provided [RCV003441116] ChrX:19371390 [GRCh38]
ChrX:19389508 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.233del (p.Gly78fs) deletion MAP3K15-related disorder [RCV003408636] ChrX:19515029 [GRCh38]
ChrX:19533147 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3117A>G (p.Glu1039=) single nucleotide variant not provided [RCV003441117] ChrX:19371522 [GRCh38]
ChrX:19389640 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1206G>A (p.Ser402=) single nucleotide variant not provided [RCV003441120] ChrX:19426304 [GRCh38]
ChrX:19444422 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.657G>C (p.Pro219=) single nucleotide variant not provided [RCV003441121] ChrX:19464275 [GRCh38]
ChrX:19482393 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2575G>A (p.Ala859Thr) single nucleotide variant not provided [RCV003488017]|not specified [RCV004935332] ChrX:19380134 [GRCh38]
ChrX:19398252 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3773T>C (p.Ile1258Thr) single nucleotide variant not specified [RCV004416291] ChrX:19361500 [GRCh38]
ChrX:19379618 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3808G>T (p.Asp1270Tyr) single nucleotide variant not specified [RCV004416293] ChrX:19361388 [GRCh38]
ChrX:19379506 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1517A>G (p.Gln506Arg) single nucleotide variant not specified [RCV004416275] ChrX:19415180 [GRCh38]
ChrX:19433298 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1711G>A (p.Glu571Lys) single nucleotide variant not specified [RCV004416276] ChrX:19409961 [GRCh38]
ChrX:19428079 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1790A>G (p.His597Arg) single nucleotide variant not specified [RCV004416279] ChrX:19407242 [GRCh38]
ChrX:19425360 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2191G>A (p.Gly731Arg) single nucleotide variant not specified [RCV004416281] ChrX:19395084 [GRCh38]
ChrX:19413202 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2668G>A (p.Glu890Lys) single nucleotide variant not specified [RCV004416284] ChrX:19374582 [GRCh38]
ChrX:19392700 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3155T>C (p.Ile1052Thr) single nucleotide variant not specified [RCV004416288] ChrX:19371484 [GRCh38]
ChrX:19389602 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3793G>A (p.Gly1265Ser) single nucleotide variant not specified [RCV004416292] ChrX:19361403 [GRCh38]
ChrX:19379521 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.448A>G (p.Asn150Asp) single nucleotide variant not specified [RCV004416295] ChrX:19488881 [GRCh38]
ChrX:19506999 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV004416296] ChrX:19460067 [GRCh38]
ChrX:19478185 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114) copy number loss not specified [RCV003986240] ChrX:168546..58364114 [GRCh37]
ChrX:Xp22.33-11.1		 pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170) copy number loss not specified [RCV003986200] ChrX:168546..55653170 [GRCh37]
ChrX:Xp22.33-11.21		 pathogenic
NM_001001671.4(MAP3K15):c.1480C>T (p.Arg494Cys) single nucleotide variant MAP3K15-related disorder [RCV003942000] ChrX:19415217 [GRCh38]
ChrX:19433335 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.2865C>T (p.Ser955=) single nucleotide variant MAP3K15-related disorder [RCV003949205] ChrX:19373604 [GRCh38]
ChrX:19391722 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1051C>G (p.Gln351Glu) single nucleotide variant not specified [RCV004416267] ChrX:19431553 [GRCh38]
ChrX:19449671 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2729A>G (p.Gln910Arg) single nucleotide variant not specified [RCV004416285] ChrX:19374521 [GRCh38]
ChrX:19392639 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3856C>T (p.Arg1286Trp) single nucleotide variant not specified [RCV004416294] ChrX:19361340 [GRCh38]
ChrX:19379458 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2868C>T (p.Asp956=) single nucleotide variant MAP3K15-related disorder [RCV003947240] ChrX:19373601 [GRCh38]
ChrX:19391719 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2328C>T (p.Gly776=) single nucleotide variant MAP3K15-related disorder [RCV003919688] ChrX:19392105 [GRCh38]
ChrX:19410223 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1366A>G (p.Ser456Gly) single nucleotide variant MAP3K15-related disorder [RCV003924402] ChrX:19425604 [GRCh38]
ChrX:19443722 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.574G>A (p.Ala192Thr) single nucleotide variant MAP3K15-related disorder [RCV003982151] ChrX:19464358 [GRCh38]
ChrX:19482476 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.1036A>G (p.Met346Val) single nucleotide variant not specified [RCV004416266] ChrX:19431568 [GRCh38]
ChrX:19449686 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1742G>A (p.Gly581Glu) single nucleotide variant not specified [RCV004416277] ChrX:19409930 [GRCh38]
ChrX:19428048 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3035G>A (p.Arg1012His) single nucleotide variant not specified [RCV004416286] ChrX:19372726 [GRCh38]
ChrX:19390844 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2627C>G (p.Ala876Gly) single nucleotide variant MAP3K15-related disorder [RCV003909799] ChrX:19374623 [GRCh38]
ChrX:19392741 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.2085C>T (p.His695=) single nucleotide variant MAP3K15-related disorder [RCV003919455] ChrX:19395190 [GRCh38]
ChrX:19413308 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.1147C>T (p.Arg383Cys) single nucleotide variant not specified [RCV004416268] ChrX:19431457 [GRCh38]
ChrX:19449575 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1286G>A (p.Arg429Gln) single nucleotide variant not specified [RCV004416271] ChrX:19425684 [GRCh38]
ChrX:19443802 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1448G>A (p.Arg483Gln) single nucleotide variant not specified [RCV004416273] ChrX:19415249 [GRCh38]
ChrX:19433367 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2200C>T (p.Leu734Phe) single nucleotide variant not specified [RCV004416282] ChrX:19392468 [GRCh38]
ChrX:19410586 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3668T>C (p.Leu1223Ser) single nucleotide variant not specified [RCV004416289] ChrX:19362749 [GRCh38]
ChrX:19380867 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.552C>T (p.Ile184=) single nucleotide variant MAP3K15-related disorder [RCV003912297] ChrX:19464380 [GRCh38]
ChrX:19482498 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2512G>A (p.Gly838Ser) single nucleotide variant MAP3K15-related disorder [RCV003964088] ChrX:19380197 [GRCh38]
ChrX:19398315 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.3599_3600del (p.Glu1200fs) microsatellite MAP3K15-related disorder [RCV003952029] ChrX:19362817..19362818 [GRCh38]
ChrX:19380935..19380936 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1893G>A (p.Thr631=) single nucleotide variant MAP3K15-related disorder [RCV003961936] ChrX:19400615 [GRCh38]
ChrX:19418733 [GRCh37]
ChrX:Xp22.12		 likely benign
GRCh37/hg19 Xp22.12(chrX:19425306-19817802)x1 copy number loss not provided [RCV003885527] ChrX:19425306..19817802 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3567-13_3567-8del deletion MAP3K15-related disorder [RCV003926907] ChrX:19362858..19362863 [GRCh38]
ChrX:19380976..19380981 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1369A>C (p.Met457Leu) single nucleotide variant MAP3K15-related disorder [RCV003903905] ChrX:19425601 [GRCh38]
ChrX:19443719 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1295G>C (p.Ser432Thr) single nucleotide variant not specified [RCV004416272] ChrX:19425675 [GRCh38]
ChrX:19443793 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2308G>A (p.Val770Met) single nucleotide variant not specified [RCV004416283] ChrX:19392360 [GRCh38]
ChrX:19410478 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3295-4_3295-3dup duplication MAP3K15-related disorder [RCV003952001] ChrX:19371066..19371067 [GRCh38]
ChrX:19389184..19389185 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1710C>T (p.His570=) single nucleotide variant MAP3K15-related disorder [RCV003922263] ChrX:19409962 [GRCh38]
ChrX:19428080 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.3295-4_3295-3del deletion MAP3K15-related disorder [RCV003931413] ChrX:19371067..19371068 [GRCh38]
ChrX:19389185..19389186 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.1971C>T (p.Val657=) single nucleotide variant MAP3K15-related disorder [RCV003911465] ChrX:19398321 [GRCh38]
ChrX:19416439 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.1509G>A (p.Ser503=) single nucleotide variant MAP3K15-related disorder [RCV003933892] ChrX:19415188 [GRCh38]
ChrX:19433306 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.2076G>A (p.Gln692=) single nucleotide variant MAP3K15-related disorder [RCV003909490] ChrX:19395199 [GRCh38]
ChrX:19413317 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.1440-1G>T single nucleotide variant MAP3K15-related disorder [RCV003911716] ChrX:19415258 [GRCh38]
ChrX:19433376 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_000284.4(PDHA1):c.*1089_*1092dup duplication PDHA1-related disorder [RCV003984761] ChrX:19360739..19360740 [GRCh38]
ChrX:19378857..19378858 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2466C>T (p.Asp822=) single nucleotide variant MAP3K15-related disorder [RCV003919806] ChrX:19380243 [GRCh38]
ChrX:19398361 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1926C>T (p.Thr642=) single nucleotide variant MAP3K15-related disorder [RCV003929647] ChrX:19400582 [GRCh38]
ChrX:19418700 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2790C>T (p.Val930=) single nucleotide variant MAP3K15-related disorder [RCV003956702] ChrX:19373679 [GRCh38]
ChrX:19391797 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2978C>T (p.Ser993Leu) single nucleotide variant MAP3K15-related disorder [RCV003916776] ChrX:19372783 [GRCh38]
ChrX:19390901 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.2356G>A (p.Gly786Arg) single nucleotide variant MAP3K15-related disorder [RCV003909669] ChrX:19392077 [GRCh38]
ChrX:19410195 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.719+9C>T single nucleotide variant MAP3K15-related disorder [RCV003916934] ChrX:19464204 [GRCh38]
ChrX:19482322 [GRCh37]
ChrX:Xp22.12		 benign
NM_001001671.4(MAP3K15):c.791C>T (p.Ala264Val) single nucleotide variant MAP3K15-related disorder [RCV003969039] ChrX:19460082 [GRCh38]
ChrX:19478200 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1369A>G (p.Met457Val) single nucleotide variant MAP3K15-related disorder [RCV003968925] ChrX:19425601 [GRCh38]
ChrX:19443719 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1623G>T (p.Gln541His) single nucleotide variant not specified [RCV004642847] ChrX:19413432 [GRCh38]
ChrX:19431550 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1210A>G (p.Ile404Val) single nucleotide variant not specified [RCV004642849] ChrX:19426300 [GRCh38]
ChrX:19444418 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NC_000023.10:g.(?_19362156)_(19613138_?)dup duplication not provided [RCV004582169] ChrX:19362156..19613138 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3709G>T (p.Gly1237Trp) single nucleotide variant not specified [RCV004642848] ChrX:19361564 [GRCh38]
ChrX:19379682 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NC_000023.10:g.(?_17393881)_(20284750_?)del deletion Coffin-Lowry syndrome [RCV004583107]|Developmental and epileptic encephalopathy, 2 [RCV004583106]|Nance-Horan syndrome [RCV004583105]|Pyruvate dehydrogenase E1-alpha deficiency [RCV004583104] ChrX:17393881..20284750 [GRCh37]
ChrX:Xp22.13-22.12		 pathogenic
NM_001001671.4(MAP3K15):c.2881G>A (p.Ala961Thr) single nucleotide variant not specified [RCV004636483] ChrX:19373588 [GRCh38]
ChrX:19391706 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.625A>C (p.Met209Leu) single nucleotide variant not specified [RCV004636485] ChrX:19464307 [GRCh38]
ChrX:19482425 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 copy number gain Klinefelter syndrome [RCV004579655] ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28		 pathogenic
NM_001001671.4(MAP3K15):c.3839T>C (p.Leu1280Pro) single nucleotide variant not specified [RCV004636484] ChrX:19361357 [GRCh38]
ChrX:19379475 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NC_000023.10:g.(?_14027032)_(19854400_?)del deletion not provided [RCV004583528] ChrX:14027032..19854400 [GRCh37]
ChrX:Xp22.2-22.12		 pathogenic
NM_001001671.4(MAP3K15):c.1132A>G (p.Lys378Glu) single nucleotide variant not specified [RCV004636486] ChrX:19431472 [GRCh38]
ChrX:19449590 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3709G>A (p.Gly1237Arg) single nucleotide variant not specified [RCV004642852] ChrX:19361564 [GRCh38]
ChrX:19379682 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.169C>T (p.Pro57Ser) single nucleotide variant not specified [RCV004642845] ChrX:19515093 [GRCh38]
ChrX:19533211 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2905C>T (p.Pro969Ser) single nucleotide variant not specified [RCV004642844] ChrX:19373564 [GRCh38]
ChrX:19391682 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1954A>C (p.Asn652His) single nucleotide variant not specified [RCV004642846] ChrX:19398338 [GRCh38]
ChrX:19416456 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.818G>A (p.Arg273His) single nucleotide variant not specified [RCV004642850] ChrX:19460055 [GRCh38]
ChrX:19478173 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.899C>T (p.Ala300Val) single nucleotide variant not specified [RCV004642851] ChrX:19457009 [GRCh38]
ChrX:19475127 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3867C>A (p.Leu1289=) single nucleotide variant not provided [RCV004810386] ChrX:19360824 [GRCh38]
ChrX:19378942 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1621C>T (p.Gln541Ter) single nucleotide variant MAP3K15-related disorder [RCV004730167] ChrX:19413434 [GRCh38]
ChrX:19431552 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.31G>A (p.Gly11Arg) single nucleotide variant not specified [RCV004938822] ChrX:19515231 [GRCh38]
ChrX:19533349 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3682A>G (p.Ile1228Val) single nucleotide variant not specified [RCV004938817] ChrX:19361591 [GRCh38]
ChrX:19379709 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1845A>G (p.Arg615=) single nucleotide variant not specified [RCV004938816] ChrX:19400663 [GRCh38]
ChrX:19418781 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.2869G>A (p.Ala957Thr) single nucleotide variant not specified [RCV004938811] ChrX:19373600 [GRCh38]
ChrX:19391718 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2680C>T (p.His894Tyr) single nucleotide variant not specified [RCV004938829] ChrX:19374570 [GRCh38]
ChrX:19392688 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1307G>A (p.Arg436Lys) single nucleotide variant not specified [RCV004938834] ChrX:19425663 [GRCh38]
ChrX:19443781 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2618T>G (p.Ile873Ser) single nucleotide variant not specified [RCV004938825] ChrX:19374632 [GRCh38]
ChrX:19392750 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2329G>A (p.Asp777Asn) single nucleotide variant not specified [RCV004938820] ChrX:19392104 [GRCh38]
ChrX:19410222 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.163G>T (p.Gly55Cys) single nucleotide variant not specified [RCV004938818] ChrX:19515099 [GRCh38]
ChrX:19533217 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1478G>A (p.Arg493Gln) single nucleotide variant not specified [RCV004938815] ChrX:19415219 [GRCh38]
ChrX:19433337 [GRCh37]
ChrX:Xp22.12		 likely benign
NM_001001671.4(MAP3K15):c.1067C>T (p.Pro356Leu) single nucleotide variant not specified [RCV004938814] ChrX:19431537 [GRCh38]
ChrX:19449655 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2741G>A (p.Gly914Asp) single nucleotide variant not specified [RCV004938813] ChrX:19374509 [GRCh38]
ChrX:19392627 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2469A>T (p.Gln823His) single nucleotide variant not specified [RCV004938812] ChrX:19380240 [GRCh38]
ChrX:19398358 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.3347T>C (p.Met1116Thr) single nucleotide variant not specified [RCV004938809] ChrX:19371012 [GRCh38]
ChrX:19389130 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.958C>G (p.His320Asp) single nucleotide variant not specified [RCV004938808] ChrX:19456950 [GRCh38]
ChrX:19475068 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.1016G>A (p.Arg339His) single nucleotide variant not specified [RCV004938805] ChrX:19431588 [GRCh38]
ChrX:19449706 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh38/hg38 Xp22.13-22.12(chrX:19082709-19533992)x3 copy number gain Intellectual disability [RCV004776404] ChrX:19082709..19533992 [GRCh38]
ChrX:Xp22.13-22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.2287T>C (p.Tyr763His) single nucleotide variant not specified [RCV004938828] ChrX:19392381 [GRCh38]
ChrX:19410499 [GRCh37]
ChrX:Xp22.12		 uncertain significance
NM_001001671.4(MAP3K15):c.400C>T (p.Pro134Ser) single nucleotide variant not specified [RCV004938831] ChrX:19488929 [GRCh38]
ChrX:19507047 [GRCh37]
ChrX:Xp22.12		 uncertain significance
GRCh37/hg19 Xp22.2-11.23(chrX:15392463-48777470)x1 copy number loss not provided [RCV004819405] ChrX:15392463..48777470 [GRCh37]
ChrX:Xp22.2-11.23		 pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:2631638-25008584)x1 copy number loss not provided [RCV004819402] ChrX:2631638..25008584 [GRCh37]
ChrX:Xp22.33-21.3		 pathogenic
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2184
Count of miRNA genes:768
Interacting mature miRNAs:899
Transcripts:ENST00000338883, ENST00000359173, ENST00000469203, ENST00000470101, ENST00000518578
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597284200GWAS1380274_Hglucose measurement QTL GWAS1380274 (human)6e-10glucose measurementblood glucose level (CMO:0000046)X1936152219361523Human
597153042GWAS1249116_Hgestational diabetes QTL GWAS1249116 (human)0.000004gestational diabetesX1938019719380198Human
597066947GWAS1163021_Hsusceptibility to chronic sinus infection measurement QTL GWAS1163021 (human)0.000009susceptibility to chronic sinus infection measurementX1943539619435397Human
597285006GWAS1381080_Hhemoglobin A1 measurement QTL GWAS1381080 (human)4e-09hemoglobin A1 measurementX1942560419425605Human
407057306GWAS706282_Htriacylglycerol 56:3 measurement QTL GWAS706282 (human)0.000003blood triglyceride amount (VT:0002644)X1938800119388002Human
597250853GWAS1346927_Hfasting blood glucose measurement QTL GWAS1346927 (human)2e-11fasting blood glucose measurementX1938019719380198Human
597293655GWAS1389729_Htype 2 diabetes mellitus QTL GWAS1389729 (human)8e-11type 2 diabetes mellitusX1936152219361523Human
596963627GWAS1083146_Htype 2 diabetes mellitus QTL GWAS1083146 (human)8e-11type 2 diabetes mellitusX1936152219361523Human

Markers in Region
DXS7592  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,483,813 - 19,484,037UniSTSGRCh37
Build 36X19,393,734 - 19,393,958RGDNCBI36
CeleraX23,605,078 - 23,605,304RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,231,924 - 17,232,150UniSTS
Marshfield Genetic MapX23.26UniSTS
Marshfield Genetic MapX23.26RGD
Genethon Genetic MapX29.0UniSTS
Stanford-G3 RH MapX1025.0UniSTS
Whitehead-YAC Contig MapX UniSTS
NCBI RH MapX414.9UniSTS
GeneMap99-G3 RH MapX211.0UniSTS
RH65815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,789 - 19,377,927UniSTSGRCh37
Build 36X19,287,710 - 19,287,848RGDNCBI36
CeleraX23,499,125 - 23,499,263RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,965 - 17,127,103UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
NCBI RH MapX10.0UniSTS
RH81017  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,379,556 - 19,379,780UniSTSGRCh37
Build 36X19,289,477 - 19,289,701RGDNCBI36
CeleraX23,500,894 - 23,501,118RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,128,732 - 17,128,956UniSTS
GeneMap99-GB4 RH MapX92.32UniSTS
RH93821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,379,375 - 19,379,541UniSTSGRCh37
Build 36X19,289,296 - 19,289,462RGDNCBI36
CeleraX23,500,713 - 23,500,879RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,128,551 - 17,128,717UniSTS
GeneMap99-GB4 RH MapX88.99UniSTS
GDB:438035  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,700 - 19,377,780UniSTSGRCh37
Build 36X19,287,621 - 19,287,701RGDNCBI36
CeleraX23,499,036 - 23,499,116RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,876 - 17,126,956UniSTS
SHGC-152957  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,483,890 - 19,484,108UniSTSGRCh37
Build 36X19,393,811 - 19,394,029RGDNCBI36
CeleraX23,605,155 - 23,605,375RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,232,001 - 17,232,221UniSTS
TNG Radiation Hybrid Map817473.0UniSTS
SHGC-112075  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,417,839 - 19,417,952UniSTSGRCh37
Build 36X19,327,760 - 19,327,873RGDNCBI36
CeleraX23,539,328 - 23,539,440RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,166,158 - 17,166,271UniSTS
345L8_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,418,194 - 19,418,450UniSTSGRCh37
Build 36X19,328,115 - 19,328,371RGDNCBI36
CeleraX23,539,682 - 23,539,938RGD
Cytogenetic MapXp22.12UniSTS
442A14_T7  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,506,809 - 19,506,980UniSTSGRCh37
Build 36X19,416,730 - 19,416,901RGDNCBI36
CeleraX23,628,716 - 23,628,887RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,254,626 - 17,254,797UniSTS
501O24_SP6  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,433,042 - 19,433,264UniSTSGRCh37
Build 36X19,342,963 - 19,343,185RGDNCBI36
CeleraX23,554,529 - 23,554,751RGD
Cytogenetic MapXp22.12UniSTS
HuRefX17,181,712 - 17,181,934UniSTS
DXS9734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X19,377,778 - 19,377,868UniSTSGRCh37
Build 36X19,287,699 - 19,287,789RGDNCBI36
CeleraX23,499,114 - 23,499,204RGD
Cytogenetic MapXp22.12UniSTS
Cytogenetic MapXp22.1UniSTS
HuRefX17,126,954 - 17,127,044UniSTS
D10S16   No map positions available.
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
L17709  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3q27UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1070 2263 2421 1997 4577 1520 2096 4 450 1863 294 1894 6576 5904 52 3604 790 1688 1554 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001001671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545511 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047442100 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327037 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327039 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327040 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054327041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007068188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK122632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131412 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL732423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN293540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DV080548 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000338883   ⟹   ENSP00000345629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX19,360,059 - 19,515,508 (-)Ensembl
Ensembl Acc Id: ENST00000359173   ⟹   ENSP00000352093
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX19,360,058 - 19,460,127 (-)Ensembl
Ensembl Acc Id: ENST00000470101
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX19,360,060 - 19,373,178 (-)Ensembl
Ensembl Acc Id: ENST00000518578
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 EnsemblX19,360,056 - 19,482,276 (-)Ensembl
RefSeq Acc Id: NM_001001671   ⟹   NP_001001671
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,360,059 - 19,515,508 (-)NCBI
GRCh37X19,378,174 - 19,533,379 (-)NCBI
Build 36X19,288,095 - 19,410,315 (-)NCBI Archive
CeleraX23,499,514 - 23,656,927 (-)RGD
HuRefX17,127,352 - 17,281,966 (-)RGD
CHM1_1X19,409,233 - 19,563,759 (-)NCBI
T2T-CHM13v2.0X18,942,795 - 19,098,393 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545507   ⟹   XP_011543809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,360,059 - 19,515,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545508   ⟹   XP_011543810
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,360,059 - 19,515,508 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545510   ⟹   XP_011543812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,360,059 - 19,431,430 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011545511   ⟹   XP_011543813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,360,059 - 19,415,100 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047442100   ⟹   XP_047298056
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,374,553 - 19,515,508 (-)NCBI
RefSeq Acc Id: XM_054327037   ⟹   XP_054183012
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,942,795 - 19,098,393 (-)NCBI
RefSeq Acc Id: XM_054327038   ⟹   XP_054183013
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,942,795 - 19,098,393 (-)NCBI
RefSeq Acc Id: XM_054327039   ⟹   XP_054183014
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,942,795 - 19,014,162 (-)NCBI
RefSeq Acc Id: XM_054327040   ⟹   XP_054183015
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,957,329 - 19,098,393 (-)NCBI
RefSeq Acc Id: XM_054327041   ⟹   XP_054183016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,942,795 - 18,997,830 (-)NCBI
RefSeq Acc Id: XR_007068188
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X19,395,129 - 19,515,508 (-)NCBI
RefSeq Acc Id: XR_008485479
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0X18,977,907 - 19,098,393 (-)NCBI
RefSeq Acc Id: NP_001001671   ⟸   NM_001001671
- UniProtKB: Q5JPR4 (UniProtKB/Swiss-Prot),   A6NJ61 (UniProtKB/Swiss-Prot),   A2AI50 (UniProtKB/Swiss-Prot),   A2AI49 (UniProtKB/Swiss-Prot),   Q6ZMV3 (UniProtKB/Swiss-Prot),   Q6ZN16 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011543810   ⟸   XM_011545508
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011543809   ⟸   XM_011545507
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011543812   ⟸   XM_011545510
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011543813   ⟸   XM_011545511
- Peptide Label: isoform X5
- UniProtKB: Q6ZN16 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000352093   ⟸   ENST00000359173
Ensembl Acc Id: ENSP00000345629   ⟸   ENST00000338883
RefSeq Acc Id: XP_047298056   ⟸   XM_047442100
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054183013   ⟸   XM_054327038
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054183012   ⟸   XM_054327037
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054183014   ⟸   XM_054327039
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054183016   ⟸   XM_054327041
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054183015   ⟸   XM_054327040
- Peptide Label: isoform X4
Protein Domains
MAP3K TRAFs-binding   Protein kinase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6ZN16-F1-model_v2 AlphaFold Q6ZN16 1-1313 view protein structure

Promoters
RGD ID:6809022
Promoter ID:HG_KWN:66180
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:UC004CZI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36X19,300,454 - 19,300,954 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:31689 AgrOrtholog
COSMIC MAP3K15 COSMIC
Ensembl Genes ENSG00000180815 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000338883 ENTREZGENE
  ENST00000338883.9 UniProtKB/Swiss-Prot
  ENST00000359173.7 UniProtKB/TrEMBL
Gene3D-CATH Phosphorylase Kinase, domain 1 UniProtKB/Swiss-Prot
  Transferase(Phosphotransferase) domain 1 UniProtKB/Swiss-Prot
GTEx ENSG00000180815 GTEx
HGNC ID HGNC:31689 ENTREZGENE
Human Proteome Map MAP3K15 Human Proteome Map
InterPro DRHyd-ASK UniProtKB/Swiss-Prot
  DUF4071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HisK-N-like UniProtKB/Swiss-Prot
  Kinase-like_dom_sf UniProtKB/Swiss-Prot
  MAP3K_PH UniProtKB/Swiss-Prot
  Prot_kinase_dom UniProtKB/Swiss-Prot
  Protein_kinase_ATP_BS UniProtKB/Swiss-Prot
  SAM/pointed_sf UniProtKB/Swiss-Prot
  Ser/Thr_kinase_AS UniProtKB/Swiss-Prot
KEGG Report hsa:389840 UniProtKB/Swiss-Prot
NCBI Gene 389840 ENTREZGENE
OMIM 300820 OMIM
PANTHER MITOGEN-ACTIVATED PROTEIN KINASE KINASE KINASE 15 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE/THREONINE PROTEIN KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASK_PH UniProtKB/Swiss-Prot
  DRHyd-ASK UniProtKB/Swiss-Prot
  DUF4071 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HisK-N-like UniProtKB/Swiss-Prot
  Pkinase UniProtKB/Swiss-Prot
PharmGKB PA134935369 PharmGKB
PROSITE PROTEIN_KINASE_ATP UniProtKB/Swiss-Prot
  PROTEIN_KINASE_DOM UniProtKB/Swiss-Prot
  PROTEIN_KINASE_ST UniProtKB/Swiss-Prot
SMART S_TKc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF47769 UniProtKB/Swiss-Prot
  SSF56112 UniProtKB/Swiss-Prot
UniProt A0A140T8W5_HUMAN UniProtKB/TrEMBL
  A2AI49 ENTREZGENE
  A2AI50 ENTREZGENE
  A6NJ61 ENTREZGENE
  M3K15_HUMAN UniProtKB/Swiss-Prot
  Q5JPR4 ENTREZGENE
  Q6ZMV3 ENTREZGENE
  Q6ZN16 ENTREZGENE
UniProt Secondary A2AI49 UniProtKB/Swiss-Prot
  A2AI50 UniProtKB/Swiss-Prot
  A6NJ61 UniProtKB/Swiss-Prot
  Q5JPR4 UniProtKB/Swiss-Prot
  Q6ZMV3 UniProtKB/Swiss-Prot