SHPK (sedoheptulokinase) - Rat Genome Database

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Gene: SHPK (sedoheptulokinase) Homo sapiens
Analyze
Symbol: SHPK
Name: sedoheptulokinase
RGD ID: 1317524
HGNC Page HGNC:1492
Description: Enables sedoheptulokinase activity. Involved in carbohydrate metabolic process and cellular response to lipopolysaccharide. Predicted to be located in cytoplasm. Predicted to be active in cytosol.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: carbohydrate kinase-like protein; CARKL; FLJ32478; SHK
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,608,240 - 3,636,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,608,240 - 3,636,250 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,511,534 - 3,539,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,458,305 - 3,486,365 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,458,304 - 3,486,365NCBI
Celera173,525,274 - 3,553,357 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,403,309 - 3,431,324 (-)NCBIHuRef
CHM1_1173,522,339 - 3,550,373 (-)NCBICHM1_1
T2T-CHM13v2.0173,497,275 - 3,525,315 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IEA,ISS)
cytosol  (IBA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:10673275   PMID:12477932   PMID:14702039   PMID:18186520   PMID:19413330   PMID:19679847   PMID:19913121   PMID:20628086   PMID:21873635   PMID:21988832   PMID:22682222   PMID:26186194  
PMID:28514442   PMID:29117863   PMID:32393512   PMID:33961781   PMID:35256949   PMID:35439318   PMID:35545034   PMID:36215168  


Genomics

Comparative Map Data
SHPK
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,608,240 - 3,636,250 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,608,240 - 3,636,250 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,511,534 - 3,539,544 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,458,305 - 3,486,365 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,458,304 - 3,486,365NCBI
Celera173,525,274 - 3,553,357 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,403,309 - 3,431,324 (-)NCBIHuRef
CHM1_1173,522,339 - 3,550,373 (-)NCBICHM1_1
T2T-CHM13v2.0173,497,275 - 3,525,315 (-)NCBIT2T-CHM13v2.0
Shpk
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,090,153 - 73,115,337 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,090,286 - 73,115,337 (+)EnsemblGRCm39 Ensembl
GRCm381173,199,132 - 73,224,511 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,199,460 - 73,224,511 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,012,984 - 73,038,008 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,015,677 - 73,040,701 (+)NCBIMGSCv36mm8
Celera1180,736,568 - 80,761,767 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
Shpk
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,316,065 - 58,340,489 (+)NCBIGRCr8
mRatBN7.21057,817,551 - 57,841,981 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,817,629 - 57,841,980 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,473,323 - 62,497,644 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01061,961,788 - 61,986,111 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,460,929 - 57,485,241 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,765,328 - 59,789,676 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,765,258 - 59,789,678 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,504,502 - 59,528,849 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,075,861 - 60,100,209 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11060,089,463 - 60,112,512 (+)NCBI
Celera1056,940,488 - 56,964,835 (+)NCBICelera
Cytogenetic Map10q24NCBI
Shpk
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,169,063 - 13,212,269 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,169,072 - 13,209,585 (+)NCBIChiLan1.0ChiLan1.0
SHPK
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,219,432 - 11,248,307 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,186,609 - 13,235,292 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,657,764 - 3,686,791 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,654,237 - 3,683,422 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,654,237 - 3,683,421 (-)Ensemblpanpan1.1panPan2
SHPK
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,445,969 - 47,486,756 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,608,830 - 46,649,250 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,291,864 - 48,332,347 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,288,115 - 48,320,151 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1947,069,503 - 47,110,121 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,358,836 - 47,399,242 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,414,415 - 47,454,872 (-)NCBIUU_Cfam_GSD_1.0
Shpk
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,558,019 - 55,586,647 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677314,294 - 342,855 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677314,328 - 342,892 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SHPK
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,712,177 - 49,732,246 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,713,224 - 49,732,319 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,572,902 - 51,592,034 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SHPK
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1163,104,139 - 3,138,545 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,105,527 - 3,138,389 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,691,695 - 18,720,574 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Shpk
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,267,914 - 6,297,626 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,271,636 - 6,296,872 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SHPK
160 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3 copy number gain See cases [RCV000050798] Chr17:3543809..3658724 [GRCh38]
Chr17:3447103..3562018 [GRCh37]
Chr17:3393853..3508767 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 copy number loss See cases [RCV000053406] Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
NC_000017.11:g.3600934_3658165del deletion Juvenile nephropathic cystinosis [RCV000004697]|Nephropathic cystinosis [RCV000004696]|Ocular cystinosis [RCV000004698] Chr17:3600934..3658165 [GRCh38]
Chr17:3504228..3561459 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 copy number gain See cases [RCV000137331] Chr17:3102273..3667053 [GRCh38]
Chr17:3005567..3570347 [GRCh37]
Chr17:2952317..3517096 [NCBI36]
Chr17:17p13.3-13.2		 likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:3624551-3655040)x1 copy number loss See cases [RCV000140213] Chr17:3624551..3655040 [GRCh38]
Chr17:3527845..3558334 [GRCh37]
Chr17:3474594..3505083 [NCBI36]
Chr17:17p13.2		 benign
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 copy number loss See cases [RCV000139722] Chr17:3494418..3727880 [GRCh38]
Chr17:3397712..3631174 [GRCh37]
Chr17:3344462..3577923 [NCBI36]
Chr17:17p13.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 copy number loss See cases [RCV000142613] Chr17:3543809..3711347 [GRCh38]
Chr17:3447103..3614641 [GRCh37]
Chr17:3393853..3561390 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2		 likely benign|uncertain significance
Single allele deletion Normal pregnancy [RCV000161800] Chr17:3602749..3678945 [GRCh38]
Chr17:3506043..3582239 [GRCh37]
Chr17:17p13.2		 not provided
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3 copy number gain See cases [RCV000239943] Chr17:3392623..3663528 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.355C>T (p.Arg119Ter) single nucleotide variant Isolated sedoheptulokinase deficiency [RCV000412581]|not provided [RCV001861408] Chr17:3624187 [GRCh38]
Chr17:3527481 [GRCh37]
Chr17:17p13.2		 affects|uncertain significance
NM_013276.4(SHPK):c.211G>T (p.Glu71Ter) single nucleotide variant Isolated sedoheptulokinase deficiency [RCV000412642] Chr17:3630304 [GRCh38]
Chr17:3533598 [GRCh37]
Chr17:17p13.2		 affects
Single allele deletion TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy [RCV000735209] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2		 likely pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not specified [RCV003987207] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2		 pathogenic|likely benign
GRCh37/hg19 17p13.2(chr17:3505669-3557440)x1 copy number loss See cases [RCV000445884] Chr17:3505669..3557440 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505669-3557452)x1 copy number loss See cases [RCV000445797] Chr17:3505669..3557452 [GRCh37]
Chr17:17p13.2		 conflicting data from submitters
GRCh37/hg19 17p13.2(chr17:3505485-3558334)x1 copy number loss See cases [RCV000445911] Chr17:3505485..3558334 [GRCh37]
Chr17:17p13.2		 benign|likely benign
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505669-3557297)x1 copy number loss See cases [RCV000448635] Chr17:3505669..3557297 [GRCh37]
Chr17:17p13.2		 conflicting data from submitters
GRCh37/hg19 17p13.2(chr17:3505638-3559746) copy number loss Abnormal esophagus morphology [RCV000416740] Chr17:3505638..3559746 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss See cases [RCV000511267] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.2(chr17:3489513-3557452)x1 copy number loss not provided [RCV000683879] Chr17:3489513..3557452 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.11:g.(?_3489235)_(3729555_?)del deletion Spongy degeneration of central nervous system [RCV000707830]|not provided [RCV001861925] Chr17:3489235..3729555 [GRCh38]
Chr17:3392529..3632849 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
GRCh37/hg19 17p13.2(chr17:3505233-3559781)x1 copy number loss not provided [RCV000739375] Chr17:3505233..3559781 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3505233-3561396)x1 copy number loss not provided [RCV000739376] Chr17:3505233..3561396 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.2(chr17:3510192-3559781)x1 copy number loss not provided [RCV000739377] Chr17:3510192..3559781 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_013276.4(SHPK):c.69G>A (p.Arg23=) single nucleotide variant not provided [RCV000926587] Chr17:3636151 [GRCh38]
Chr17:3539445 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.824-10C>T single nucleotide variant not provided [RCV000884258] Chr17:3615547 [GRCh38]
Chr17:3518841 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.105G>A (p.Leu35=) single nucleotide variant not provided [RCV000899246] Chr17:3636115 [GRCh38]
Chr17:3539409 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1237A>G (p.Met413Val) single nucleotide variant not provided [RCV000968489] Chr17:3610760 [GRCh38]
Chr17:3514054 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.831C>T (p.Asn277=) single nucleotide variant not provided [RCV000902890] Chr17:3615530 [GRCh38]
Chr17:3518824 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.621G>T (p.Thr207=) single nucleotide variant not provided [RCV000926324] Chr17:3623365 [GRCh38]
Chr17:3526659 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.429G>A (p.Pro143=) single nucleotide variant not provided [RCV000926629] Chr17:3624113 [GRCh38]
Chr17:3527407 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.1110G>A (p.Pro370=) single nucleotide variant not provided [RCV000905177] Chr17:3610887 [GRCh38]
Chr17:3514181 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000849845] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000845955] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000849925] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000847069] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562748)x1 copy number loss not provided [RCV000849767] Chr17:3505567..3562748 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1 copy number loss not provided [RCV000849247] Chr17:3505567..3562685 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss not provided [RCV001006860] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000845794] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3505975-3557440)x1 copy number loss not provided [RCV000847697] Chr17:3505975..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3562685)x1 copy number loss not provided [RCV000848673] Chr17:3505567..3562685 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847783] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847802] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000848843] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not provided [RCV000848322] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1 copy number loss not provided [RCV000848897] Chr17:3405774..3640694 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3489144-3562748)x1 copy number loss not provided [RCV000847225] Chr17:3489144..3562748 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000849437] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557452)x1 copy number loss not provided [RCV000849989] Chr17:3505567..3557452 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000848547] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505975-3557440)x1 copy number loss not provided [RCV000848560] Chr17:3505975..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3509831-3545112)x1 copy number loss not provided [RCV000846262] Chr17:3509831..3545112 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3562748)x1 copy number loss not provided [RCV000845819] Chr17:3505567..3562748 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505567-3557440)x1 copy number loss not provided [RCV000847569] Chr17:3505567..3557440 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_013276.4(SHPK):c.955G>A (p.Ala319Thr) single nucleotide variant SHPK-related condition [RCV003972958]|not provided [RCV000974129] Chr17:3615406 [GRCh38]
Chr17:3518700 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.794A>G (p.Tyr265Cys) single nucleotide variant SHPK-related condition [RCV003920692]|not provided [RCV000887760] Chr17:3621266 [GRCh38]
Chr17:3524560 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.273C>A (p.Gly91=) single nucleotide variant not provided [RCV000912635] Chr17:3630242 [GRCh38]
Chr17:3533536 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.210C>T (p.His70=) single nucleotide variant not provided [RCV000912636] Chr17:3630305 [GRCh38]
Chr17:3533599 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.1122G>A (p.Gly374=) single nucleotide variant SHPK-related condition [RCV003903109]|not provided [RCV000934594] Chr17:3610875 [GRCh38]
Chr17:3514169 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.694G>A (p.Glu232Lys) single nucleotide variant not provided [RCV000890162] Chr17:3621366 [GRCh38]
Chr17:3524660 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3431968-3518264)x1 copy number loss not provided [RCV001006861] Chr17:3431968..3518264 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3394299-3632836) copy number loss Primary familial dilated cardiomyopathy [RCV001195115] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3392519)_(3564038_?)del deletion Ocular cystinosis [RCV001381609]|Spongy degeneration of central nervous system [RCV001383990] Chr17:3392519..3564038 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_013276.4(SHPK):c.643G>A (p.Glu215Lys) single nucleotide variant not provided [RCV001514025] Chr17:3623343 [GRCh38]
Chr17:3526637 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.495-19dup duplication Isolated sedoheptulokinase deficiency [RCV002476831]|not provided [RCV001523178] Chr17:3623505..3623506 [GRCh38]
Chr17:3526799..3526800 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_013276.4(SHPK):c.1263= (p.Glu421=) variation not provided [RCV001512620] Chr17:3610734 [GRCh38]
Chr17:3514028 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3 copy number gain not provided [RCV001834365] Chr17:2646815..3698838 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_013276.4(SHPK):c.659C>T (p.Ser220Leu) single nucleotide variant Inborn genetic diseases [RCV002569338]|not provided [RCV001970848] Chr17:3621401 [GRCh38]
Chr17:3524695 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.349G>C (p.Glu117Gln) single nucleotide variant not provided [RCV002023396] Chr17:3624193 [GRCh38]
Chr17:3527487 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1192G>A (p.Val398Met) single nucleotide variant Inborn genetic diseases [RCV002562221]|not provided [RCV001950461] Chr17:3610805 [GRCh38]
Chr17:3514099 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1157_1161del (p.Thr386fs) deletion not provided [RCV001928724] Chr17:3610836..3610840 [GRCh38]
Chr17:3514130..3514134 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3504346)_(3561464_?)del deletion Ocular cystinosis [RCV003104159] Chr17:3504346..3561464 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3534214-3552386) copy number loss not specified [RCV002052579] Chr17:3534214..3552386 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV001946097] Chr17:3610645 [GRCh38]
Chr17:3513939 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.913G>A (p.Ala305Thr) single nucleotide variant not provided [RCV001893804] Chr17:3615448 [GRCh38]
Chr17:3518742 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1127G>C (p.Arg376Thr) single nucleotide variant not provided [RCV001890842] Chr17:3610870 [GRCh38]
Chr17:3514164 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1232A>G (p.His411Arg) single nucleotide variant not provided [RCV001986358] Chr17:3610765 [GRCh38]
Chr17:3514059 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.244C>T (p.Arg82Trp) single nucleotide variant Inborn genetic diseases [RCV003167307]|not provided [RCV001964802] Chr17:3630271 [GRCh38]
Chr17:3533565 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.377C>T (p.Thr126Met) single nucleotide variant not provided [RCV001911470] Chr17:3624165 [GRCh38]
Chr17:3527459 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1338G>T (p.Arg446Ser) single nucleotide variant not provided [RCV001984806] Chr17:3610659 [GRCh38]
Chr17:3513953 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.902_903insTACTGGAGTAGTA (p.Ala302fs) insertion not provided [RCV001886725] Chr17:3615458..3615459 [GRCh38]
Chr17:3518752..3518753 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.349G>A (p.Glu117Lys) single nucleotide variant not provided [RCV001942390] Chr17:3624193 [GRCh38]
Chr17:3527487 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.309A>T (p.Gln103His) single nucleotide variant not provided [RCV001888157] Chr17:3630206 [GRCh38]
Chr17:3533500 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.493C>T (p.Arg165Cys) single nucleotide variant not provided [RCV001919581] Chr17:3624049 [GRCh38]
Chr17:3527343 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1435T>C (p.Ter479Gln) single nucleotide variant not provided [RCV001996372] Chr17:3610562 [GRCh38]
Chr17:3513856 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.272G>A (p.Gly91Asp) single nucleotide variant not provided [RCV001958525] Chr17:3630243 [GRCh38]
Chr17:3533537 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.713G>T (p.Gly238Val) single nucleotide variant not provided [RCV001883124] Chr17:3621347 [GRCh38]
Chr17:3524641 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1277G>T (p.Arg426Met) single nucleotide variant not provided [RCV001918567] Chr17:3610720 [GRCh38]
Chr17:3514014 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.901A>G (p.Thr301Ala) single nucleotide variant not provided [RCV002029021] Chr17:3615460 [GRCh38]
Chr17:3518754 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.749G>A (p.Gly250Glu) single nucleotide variant Inborn genetic diseases [RCV002625383]|not provided [RCV002015343] Chr17:3621311 [GRCh38]
Chr17:3524605 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.588C>A (p.Asp196Glu) single nucleotide variant not provided [RCV001870153] Chr17:3623398 [GRCh38]
Chr17:3526692 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3513854)_(3561559_?)del deletion not provided [RCV001943038] Chr17:3513854..3561559 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_013276.4(SHPK):c.452C>T (p.Thr151Met) single nucleotide variant Inborn genetic diseases [RCV002561370]|not provided [RCV001931242] Chr17:3624090 [GRCh38]
Chr17:3527384 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3392509)_(3571820_?)del deletion Ocular cystinosis [RCV003120774]|Spongy degeneration of central nervous system [RCV003120773]|not provided [RCV002014486] Chr17:3392509..3571820 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance|no classifications from unflagged records
NM_013276.4(SHPK):c.1263G>C (p.Glu421Asp) single nucleotide variant not provided [RCV001935576] Chr17:3610734 [GRCh38]
Chr17:3514028 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.269C>T (p.Ser90Leu) single nucleotide variant not provided [RCV001933451] Chr17:3630246 [GRCh38]
Chr17:3533540 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.431A>G (p.Lys144Arg) single nucleotide variant not provided [RCV001930880] Chr17:3624111 [GRCh38]
Chr17:3527405 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_013276.4(SHPK):c.842C>T (p.Ser281Leu) single nucleotide variant not provided [RCV001981749] Chr17:3615519 [GRCh38]
Chr17:3518813 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1409G>A (p.Arg470Gln) single nucleotide variant not provided [RCV001933760] Chr17:3610588 [GRCh38]
Chr17:3513882 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.55G>C (p.Ala19Pro) single nucleotide variant Inborn genetic diseases [RCV002545370]|not provided [RCV002050987] Chr17:3636165 [GRCh38]
Chr17:3539459 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.691G>A (p.Ala231Thr) single nucleotide variant not provided [RCV002017220] Chr17:3621369 [GRCh38]
Chr17:3524663 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.737A>C (p.Glu246Ala) single nucleotide variant not provided [RCV001879488] Chr17:3621323 [GRCh38]
Chr17:3524617 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.173G>A (p.Arg58Gln) single nucleotide variant not provided [RCV002034190] Chr17:3630342 [GRCh38]
Chr17:3533636 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.530C>T (p.Thr177Ile) single nucleotide variant not provided [RCV001940577] Chr17:3623456 [GRCh38]
Chr17:3526750 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.956C>T (p.Ala319Val) single nucleotide variant not provided [RCV001907426] Chr17:3615405 [GRCh38]
Chr17:3518699 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.647C>T (p.Thr216Ile) single nucleotide variant not provided [RCV001881155] Chr17:3623339 [GRCh38]
Chr17:3526633 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.288_292del (p.Val97fs) deletion not provided [RCV001881543] Chr17:3630223..3630227 [GRCh38]
Chr17:3533517..3533521 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.261C>T (p.Ile87=) single nucleotide variant not provided [RCV002207074] Chr17:3630254 [GRCh38]
Chr17:3533548 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1024+18C>T single nucleotide variant not provided [RCV002149541] Chr17:3615319 [GRCh38]
Chr17:3518613 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.27C>A (p.Gly9=) single nucleotide variant not provided [RCV002171234] Chr17:3636193 [GRCh38]
Chr17:3539487 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.945G>A (p.Leu315=) single nucleotide variant not provided [RCV002188427] Chr17:3615416 [GRCh38]
Chr17:3518710 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.282T>C (p.His94=) single nucleotide variant not provided [RCV002165900] Chr17:3630233 [GRCh38]
Chr17:3533527 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1179C>G (p.Leu393=) single nucleotide variant not provided [RCV002084922] Chr17:3610818 [GRCh38]
Chr17:3514112 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1024+8G>A single nucleotide variant not provided [RCV002134631] Chr17:3615329 [GRCh38]
Chr17:3518623 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.966C>T (p.Asn322=) single nucleotide variant not provided [RCV002137302] Chr17:3615395 [GRCh38]
Chr17:3518689 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1025-7C>T single nucleotide variant not provided [RCV002083349] Chr17:3610979 [GRCh38]
Chr17:3514273 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1024+12C>T single nucleotide variant not provided [RCV002120859] Chr17:3615325 [GRCh38]
Chr17:3518619 [GRCh37]
Chr17:17p13.2		 likely benign
NC_000017.10:g.(?_3447853)_(3571820_?)dup duplication not provided [RCV003116642] Chr17:3447853..3571820 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3513854)_(3533660_?)dup duplication not provided [RCV003116643] Chr17:3513854..3533660 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3513854)_(3514286_?)del deletion not provided [RCV003116644] Chr17:3513854..3514286 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3533479)_(3571820_?)dup duplication Ocular cystinosis [RCV003113611]|not provided [RCV003113612] Chr17:3533479..3571820 [GRCh37]
Chr17:17p13.2		 uncertain significance|no classifications from unflagged records
NM_013276.4(SHPK):c.118del (p.Arg40fs) deletion not provided [RCV003118758] Chr17:3636102 [GRCh38]
Chr17:3539396 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.115G>T (p.Ala39Ser) single nucleotide variant not provided [RCV003118759] Chr17:3636105 [GRCh38]
Chr17:3539399 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3379454)_(3819519_?)del deletion Spongy degeneration of central nervous system [RCV003119152] Chr17:3379454..3819519 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_013276.4(SHPK):c.764T>C (p.Val255Ala) single nucleotide variant not provided [RCV002726549] Chr17:3621296 [GRCh38]
Chr17:3524590 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1025G>A (p.Gly342Asp) single nucleotide variant not provided [RCV002300269] Chr17:3610972 [GRCh38]
Chr17:3514266 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.655A>G (p.Ser219Gly) single nucleotide variant Inborn genetic diseases [RCV003097992]|not provided [RCV002294768] Chr17:3621405 [GRCh38]
Chr17:3524699 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.84C>A (p.Asp28Glu) single nucleotide variant not provided [RCV003074398] Chr17:3636136 [GRCh38]
Chr17:3539430 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.678G>C (p.Leu226=) single nucleotide variant not provided [RCV002837628] Chr17:3621382 [GRCh38]
Chr17:3524676 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.352C>A (p.Pro118Thr) single nucleotide variant Inborn genetic diseases [RCV002907240] Chr17:3624190 [GRCh38]
Chr17:3527484 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1 copy number loss not provided [RCV002475719] Chr17:3392984..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1299G>A (p.Ala433=) single nucleotide variant not provided [RCV002756297] Chr17:3610698 [GRCh38]
Chr17:3513992 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1269C>T (p.Gly423=) single nucleotide variant not provided [RCV002618543] Chr17:3610728 [GRCh38]
Chr17:3514022 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.647+1G>A single nucleotide variant not provided [RCV002996339] Chr17:3623338 [GRCh38]
Chr17:3526632 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.203C>G (p.Ala68Gly) single nucleotide variant not provided [RCV003076928] Chr17:3630312 [GRCh38]
Chr17:3533606 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1050G>C (p.Val350=) single nucleotide variant not provided [RCV002994939] Chr17:3610947 [GRCh38]
Chr17:3514241 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.859T>C (p.Ser287Pro) single nucleotide variant not provided [RCV003012338] Chr17:3615502 [GRCh38]
Chr17:3518796 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1259A>T (p.Gln420Leu) single nucleotide variant not provided [RCV002613985] Chr17:3610738 [GRCh38]
Chr17:3514032 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.217C>G (p.Leu73Val) single nucleotide variant Inborn genetic diseases [RCV002971177]|not provided [RCV002971176] Chr17:3630298 [GRCh38]
Chr17:3533592 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.888G>T (p.Gln296His) single nucleotide variant not provided [RCV003032407] Chr17:3615473 [GRCh38]
Chr17:3518767 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.690C>T (p.Ile230=) single nucleotide variant not provided [RCV002928120] Chr17:3621370 [GRCh38]
Chr17:3524664 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.262G>A (p.Gly88Arg) single nucleotide variant not provided [RCV002953368] Chr17:3630253 [GRCh38]
Chr17:3533547 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.367C>T (p.His123Tyr) single nucleotide variant not provided [RCV002569757] Chr17:3624175 [GRCh38]
Chr17:3527469 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.382C>A (p.Gln128Lys) single nucleotide variant Inborn genetic diseases [RCV002571645]|not provided [RCV002569464] Chr17:3624160 [GRCh38]
Chr17:3527454 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.310+13C>T single nucleotide variant not provided [RCV002694839] Chr17:3630192 [GRCh38]
Chr17:3533486 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.902C>T (p.Thr301Met) single nucleotide variant not provided [RCV002927617] Chr17:3615459 [GRCh38]
Chr17:3518753 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.612T>C (p.Tyr204=) single nucleotide variant not provided [RCV002761373] Chr17:3623374 [GRCh38]
Chr17:3526668 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1341T>C (p.Ala447=) single nucleotide variant not provided [RCV002913458] Chr17:3610656 [GRCh38]
Chr17:3513950 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.348C>T (p.Phe116=) single nucleotide variant not provided [RCV002590993] Chr17:3624194 [GRCh38]
Chr17:3527488 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1136C>T (p.Pro379Leu) single nucleotide variant not provided [RCV002785412] Chr17:3610861 [GRCh38]
Chr17:3514155 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1244C>A (p.Pro415Gln) single nucleotide variant Inborn genetic diseases [RCV003060482]|not provided [RCV003058768] Chr17:3610753 [GRCh38]
Chr17:3514047 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.459C>T (p.Phe153=) single nucleotide variant not provided [RCV003085907] Chr17:3624083 [GRCh38]
Chr17:3527377 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.170G>A (p.Gly57Glu) single nucleotide variant not provided [RCV003008343] Chr17:3630345 [GRCh38]
Chr17:3533639 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.64C>G (p.Leu22Val) single nucleotide variant Inborn genetic diseases [RCV002763189] Chr17:3636156 [GRCh38]
Chr17:3539450 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.620C>T (p.Thr207Met) single nucleotide variant Inborn genetic diseases [RCV002802848] Chr17:3623366 [GRCh38]
Chr17:3526660 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1198C>T (p.Arg400Trp) single nucleotide variant not provided [RCV002957167] Chr17:3610799 [GRCh38]
Chr17:3514093 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1322A>G (p.Lys441Arg) single nucleotide variant Inborn genetic diseases [RCV002891850] Chr17:3610675 [GRCh38]
Chr17:3513969 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1073C>T (p.Ala358Val) single nucleotide variant not provided [RCV002626139] Chr17:3610924 [GRCh38]
Chr17:3514218 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.145G>C (p.Glu49Gln) single nucleotide variant not provided [RCV002919028] Chr17:3636075 [GRCh38]
Chr17:3539369 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.615C>T (p.Phe205=) single nucleotide variant not provided [RCV003007838] Chr17:3623371 [GRCh38]
Chr17:3526665 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.249C>T (p.Ser83=) single nucleotide variant not provided [RCV002643033] Chr17:3630266 [GRCh38]
Chr17:3533560 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.26G>A (p.Gly9Asp) single nucleotide variant not provided [RCV002890269] Chr17:3636194 [GRCh38]
Chr17:3539488 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.29T>C (p.Ile10Thr) single nucleotide variant Inborn genetic diseases [RCV002788223] Chr17:3636191 [GRCh38]
Chr17:3539485 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.974A>G (p.Asn325Ser) single nucleotide variant Inborn genetic diseases [RCV002664276]|not provided [RCV002664277] Chr17:3615387 [GRCh38]
Chr17:3518681 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1360T>G (p.Phe454Val) single nucleotide variant not provided [RCV002632918] Chr17:3610637 [GRCh38]
Chr17:3513931 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.991G>A (p.Val331Ile) single nucleotide variant not provided [RCV003090048] Chr17:3615370 [GRCh38]
Chr17:3518664 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.342G>A (p.Pro114=) single nucleotide variant not provided [RCV002632760] Chr17:3624200 [GRCh38]
Chr17:3527494 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.691G>C (p.Ala231Pro) single nucleotide variant not provided [RCV003087670] Chr17:3621369 [GRCh38]
Chr17:3524663 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.972C>G (p.Gly324=) single nucleotide variant not provided [RCV002632477] Chr17:3615389 [GRCh38]
Chr17:3518683 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.535C>T (p.His179Tyr) single nucleotide variant Inborn genetic diseases [RCV002714126] Chr17:3623451 [GRCh38]
Chr17:3526745 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.245G>A (p.Arg82Gln) single nucleotide variant Inborn genetic diseases [RCV002577354]|not provided [RCV002577353] Chr17:3630270 [GRCh38]
Chr17:3533564 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_013276.4(SHPK):c.1024+11G>A single nucleotide variant not provided [RCV002959225] Chr17:3615326 [GRCh38]
Chr17:3518620 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.527G>C (p.Gly176Ala) single nucleotide variant Inborn genetic diseases [RCV003308394]|not provided [RCV002988435] Chr17:3623459 [GRCh38]
Chr17:3526753 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.866C>T (p.Pro289Leu) single nucleotide variant not provided [RCV002649964] Chr17:3615495 [GRCh38]
Chr17:3518789 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1210C>T (p.Arg404Ter) single nucleotide variant not provided [RCV002646038] Chr17:3610787 [GRCh38]
Chr17:3514081 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1308G>A (p.Arg436=) single nucleotide variant not provided [RCV003063900] Chr17:3610689 [GRCh38]
Chr17:3513983 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.986C>T (p.Thr329Met) single nucleotide variant not provided [RCV002715320] Chr17:3615375 [GRCh38]
Chr17:3518669 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1183dup (p.Leu395fs) duplication not provided [RCV002597745] Chr17:3610813..3610814 [GRCh38]
Chr17:3514107..3514108 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1130A>G (p.His377Arg) single nucleotide variant Inborn genetic diseases [RCV002668331]|not provided [RCV003777580] Chr17:3610867 [GRCh38]
Chr17:3514161 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.39dup (p.Thr14fs) duplication not provided [RCV002634214] Chr17:3636180..3636181 [GRCh38]
Chr17:3539474..3539475 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1086A>G (p.Arg362=) single nucleotide variant not provided [RCV002633205] Chr17:3610911 [GRCh38]
Chr17:3514205 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.660G>C (p.Ser220=) single nucleotide variant not provided [RCV003069644] Chr17:3621400 [GRCh38]
Chr17:3524694 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.650T>C (p.Leu217Pro) single nucleotide variant not provided [RCV002676946] Chr17:3621410 [GRCh38]
Chr17:3524704 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.824-9G>A single nucleotide variant not provided [RCV002586810] Chr17:3615546 [GRCh38]
Chr17:3518840 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.393A>G (p.Arg131=) single nucleotide variant not provided [RCV003050455] Chr17:3624149 [GRCh38]
Chr17:3527443 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1205T>G (p.Leu402Arg) single nucleotide variant not provided [RCV002587979] Chr17:3610792 [GRCh38]
Chr17:3514086 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1174G>A (p.Asp392Asn) single nucleotide variant not provided [RCV002587173] Chr17:3610823 [GRCh38]
Chr17:3514117 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.824-10C>G single nucleotide variant not provided [RCV002587329] Chr17:3615547 [GRCh38]
Chr17:3518841 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.338C>T (p.Thr113Ile) single nucleotide variant not provided [RCV002607595] Chr17:3624204 [GRCh38]
Chr17:3527498 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.711G>A (p.Ala237=) single nucleotide variant not provided [RCV002582734] Chr17:3621349 [GRCh38]
Chr17:3524643 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.494+5G>A single nucleotide variant not provided [RCV003092906] Chr17:3624043 [GRCh38]
Chr17:3527337 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.516C>T (p.Tyr172=) single nucleotide variant not provided [RCV002680787] Chr17:3623470 [GRCh38]
Chr17:3526764 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.698C>T (p.Pro233Leu) single nucleotide variant not provided [RCV002603765] Chr17:3621362 [GRCh38]
Chr17:3524656 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1211G>A (p.Arg404Gln) single nucleotide variant not provided [RCV002611899] Chr17:3610786 [GRCh38]
Chr17:3514080 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.250G>A (p.Val84Ile) single nucleotide variant Inborn genetic diseases [RCV003201963] Chr17:3630265 [GRCh38]
Chr17:3533559 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_013276.4(SHPK):c.392G>A (p.Arg131Gln) single nucleotide variant Inborn genetic diseases [RCV003385065] Chr17:3624150 [GRCh38]
Chr17:3527444 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.422C>T (p.Pro141Leu) single nucleotide variant Inborn genetic diseases [RCV003362289] Chr17:3624120 [GRCh38]
Chr17:3527414 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.453G>A (p.Thr151=) single nucleotide variant not provided [RCV003571582] Chr17:3624089 [GRCh38]
Chr17:3527383 [GRCh37]
Chr17:17p13.2		 likely benign
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_013276.4(SHPK):c.711G>C (p.Ala237=) single nucleotide variant not provided [RCV003428060] Chr17:3621349 [GRCh38]
Chr17:3524643 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.585C>T (p.Ser195=) single nucleotide variant not provided [RCV003740348] Chr17:3623401 [GRCh38]
Chr17:3526695 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.440T>C (p.Leu147Pro) single nucleotide variant not provided [RCV003573909] Chr17:3624102 [GRCh38]
Chr17:3527396 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.168+19del deletion not provided [RCV003829352] Chr17:3636033 [GRCh38]
Chr17:3539327 [GRCh37]
Chr17:17p13.2		 benign
NM_013276.4(SHPK):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV003740365] Chr17:3610965 [GRCh38]
Chr17:3514259 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.923C>G (p.Pro308Arg) single nucleotide variant not provided [RCV003713648] Chr17:3615438 [GRCh38]
Chr17:3518732 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.14C>T (p.Pro5Leu) single nucleotide variant not provided [RCV003572051] Chr17:3636206 [GRCh38]
Chr17:3539500 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.420dup (p.Pro141fs) duplication not provided [RCV003879203] Chr17:3624121..3624122 [GRCh38]
Chr17:3527415..3527416 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1222C>A (p.Gln408Lys) single nucleotide variant not provided [RCV003878577] Chr17:3610775 [GRCh38]
Chr17:3514069 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.372G>C (p.Leu124=) single nucleotide variant not provided [RCV003693847] Chr17:3624170 [GRCh38]
Chr17:3527464 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.502T>C (p.Phe168Leu) single nucleotide variant not provided [RCV003835886] Chr17:3623484 [GRCh38]
Chr17:3526778 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1204C>T (p.Leu402=) single nucleotide variant not provided [RCV003559343] Chr17:3610793 [GRCh38]
Chr17:3514087 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.270G>A (p.Ser90=) single nucleotide variant not provided [RCV003837898] Chr17:3630245 [GRCh38]
Chr17:3533539 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.1182C>T (p.Ser394=) single nucleotide variant not provided [RCV003814601] Chr17:3610815 [GRCh38]
Chr17:3514109 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.14C>G (p.Pro5Arg) single nucleotide variant not provided [RCV003561817] Chr17:3636206 [GRCh38]
Chr17:3539500 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.331G>A (p.Gly111Arg) single nucleotide variant not provided [RCV003725232] Chr17:3624211 [GRCh38]
Chr17:3527505 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.45A>G (p.Thr15=) single nucleotide variant not provided [RCV003701921] Chr17:3636175 [GRCh38]
Chr17:3539469 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.131C>A (p.Ala44Glu) single nucleotide variant not provided [RCV003733709] Chr17:3636089 [GRCh38]
Chr17:3539383 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.436C>T (p.His146Tyr) single nucleotide variant not provided [RCV003731695] Chr17:3624106 [GRCh38]
Chr17:3527400 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1183C>G (p.Leu395Val) single nucleotide variant not provided [RCV003676128] Chr17:3610814 [GRCh38]
Chr17:3514108 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.168+14C>T single nucleotide variant not provided [RCV003676350] Chr17:3636038 [GRCh38]
Chr17:3539332 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.351G>A (p.Glu117=) single nucleotide variant not provided [RCV003820393] Chr17:3624191 [GRCh38]
Chr17:3527485 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.994C>T (p.His332Tyr) single nucleotide variant not provided [RCV003734134] Chr17:3615367 [GRCh38]
Chr17:3518661 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1024+16C>T single nucleotide variant not provided [RCV003684495] Chr17:3615321 [GRCh38]
Chr17:3518615 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3489513-3557205)x1 copy number loss not specified [RCV003987213] Chr17:3489513..3557205 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.1107C>T (p.Thr369=) single nucleotide variant not provided [RCV003721222] Chr17:3610890 [GRCh38]
Chr17:3514184 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_013276.4(SHPK):c.310+13C>G single nucleotide variant not provided [RCV003868840] Chr17:3630192 [GRCh38]
Chr17:3533486 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1 copy number loss not specified [RCV003987243] Chr17:3300933..3536977 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.531C>A (p.Thr177=) single nucleotide variant not provided [RCV003677708] Chr17:3623455 [GRCh38]
Chr17:3526749 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.640G>A (p.Val214Ile) single nucleotide variant not provided [RCV003823205] Chr17:3623346 [GRCh38]
Chr17:3526640 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_013276.4(SHPK):c.519C>T (p.Asp173=) single nucleotide variant not provided [RCV003820490] Chr17:3623467 [GRCh38]
Chr17:3526761 [GRCh37]
Chr17:17p13.2		 likely benign
NM_013276.4(SHPK):c.971G>A (p.Gly324Asp) single nucleotide variant not provided [RCV003846724] Chr17:3615390 [GRCh38]
Chr17:3518684 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3505567-3557441)x1 copy number loss not specified [RCV003987205] Chr17:3505567..3557441 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3505568-3557452)x1 copy number loss not specified [RCV003987208] Chr17:3505568..3557452 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3489513-3557441)x1 copy number loss not specified [RCV003987211] Chr17:3489513..3557441 [GRCh37]
Chr17:17p13.2		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3547
Count of miRNA genes:1168
Interacting mature miRNAs:1444
Transcripts:ENST00000225519, ENST00000572705, ENST00000572919
Prediction methods:Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D10S16   No map positions available.
GDB:335751  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map10q24.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map3q22.2UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map9q22.32UniSTS
G54293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,529,548 - 3,529,658UniSTSGRCh37
Celera173,543,269 - 3,543,379UniSTS
Cytogenetic Map17p13UniSTS
HuRef173,421,241 - 3,421,351UniSTS
G54296  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,535,833 - 3,536,045UniSTSGRCh37
Celera173,549,555 - 3,549,767UniSTS
Cytogenetic Map17p13UniSTS
HuRef173,427,529 - 3,427,741UniSTS
G54325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,530,871 - 3,531,196UniSTSGRCh37
Celera173,544,590 - 3,544,915UniSTS
Cytogenetic Map17p13UniSTS
HuRef173,422,562 - 3,422,887UniSTS
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
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 667 442 1082 310 170 202 2636 141 971 59 833 882 108 838 1466
Low 1773 2507 649 316 1758 265 1721 2046 2761 360 653 744 67 1 366 1322 6 2
Below cutoff 170 57 229 174 391 179 261 69 132 191 225 299 7 1 4

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000225519   ⟹   ENSP00000225519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,608,240 - 3,636,250 (-)Ensembl
RefSeq Acc Id: ENST00000572919   ⟹   ENSP00000461416
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,585,149 - 3,636,249 (-)Ensembl
RefSeq Acc Id: NM_013276   ⟹   NP_037408
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,608,240 - 3,636,250 (-)NCBI
GRCh37173,511,556 - 3,539,616 (-)RGD
Build 36173,458,305 - 3,486,365 (-)NCBI Archive
Celera173,525,274 - 3,553,357 (-)RGD
HuRef173,403,309 - 3,431,324 (-)RGD
CHM1_1173,522,339 - 3,550,373 (-)NCBI
T2T-CHM13v2.0173,497,275 - 3,525,315 (-)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_037408   ⟸   NM_013276
- UniProtKB: B2R640 (UniProtKB/Swiss-Prot),   Q8WUH3 (UniProtKB/Swiss-Prot),   Q9UHJ6 (UniProtKB/Swiss-Prot),   A0A0B4J2A0 (UniProtKB/TrEMBL),   B3KP31 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000461416   ⟸   ENST00000572919
RefSeq Acc Id: ENSP00000225519   ⟸   ENST00000225519
Protein Domains
Carbohydrate kinase FGGY N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UHJ6-F1-model_v2 AlphaFold Q9UHJ6 1-478 view protein structure

Promoters
RGD ID:6793897
Promoter ID:HG_KWN:24702
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000399306,   NM_001031681,   NM_004937,   NM_013276,   OTTHUMT00000317697,   OTTHUMT00000317698,   OTTHUMT00000317700,   OTTHUMT00000317701,   UC010CKJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,486,186 - 3,486,837 (+)MPROMDB
RGD ID:7233355
Promoter ID:EPDNEW_H22423
Type:initiation region
Name:SHPK_1
Description:sedoheptulokinase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,636,248 - 3,636,308EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1492 AgrOrtholog
COSMIC SHPK COSMIC
Ensembl Genes ENSG00000197417 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
  ENSG00000262304 Ensembl, UniProtKB/TrEMBL
Ensembl Transcript ENST00000225519 ENTREZGENE
  ENST00000225519.5 UniProtKB/Swiss-Prot
  ENST00000572919 UniProtKB/TrEMBL
Gene3D-CATH 3.30.420.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000197417 GTEx
  ENSG00000262304 GTEx
HGNC ID HGNC:1492 ENTREZGENE
Human Proteome Map SHPK Human Proteome Map
InterPro ATPase_NBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Carb_kinase_FGGY_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SHK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23729 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23729 ENTREZGENE
OMIM 605060 OMIM
PANTHER SEDOHEPTULOKINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SUGAR KINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FGGY_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA162403312 PharmGKB
Superfamily-SCOP SSF53067 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0B4J2A0 ENTREZGENE, UniProtKB/TrEMBL
  B2R640 ENTREZGENE
  B3KP31 ENTREZGENE, UniProtKB/TrEMBL
  Q8WUH3 ENTREZGENE
  Q9UHJ6 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B2R640 UniProtKB/Swiss-Prot
  Q8WUH3 UniProtKB/Swiss-Prot