HEXA (hexosaminidase subunit alpha) - Rat Genome Database
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Gene: HEXA (hexosaminidase subunit alpha) Homo sapiens
Analyze
Symbol: HEXA
Name: hexosaminidase subunit alpha
RGD ID: 1352150
HGNC Page HGNC
Description: Exhibits acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and protein heterodimerization activity. Involved in ganglioside catabolic process and glycosaminoglycan biosynthetic process. Localizes to azurophil granule and cytosol. Implicated in Tay-Sachs disease.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-hexosaminidase subunit alpha; beta-N-acetylhexosaminidase subunit alpha; hexosaminidase A (alpha polypeptide); hexosaminidase subunit A; MGC99608; N-acetyl-beta-glucosaminidase subunit alpha; TSD
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
GRCh38.p13 Ensembl1572,340,924 - 72,376,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1572,340,919 - 72,376,476 (-)EnsemblGRCh38hg38GRCh38
GRCh381572,340,924 - 72,376,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371572,633,265 - 72,668,355 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,422,832 - 70,455,457 (-)NCBINCBI36hg18NCBI36
Build 341570,422,832 - 70,455,393NCBI
Celera1549,521,918 - 49,554,688 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1549,466,005 - 49,498,776 (-)NCBIHuRef
CHM1_11572,753,784 - 72,786,821 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

Additional References at PubMed
PMID:808963   PMID:1054503   PMID:1301189   PMID:1301190   PMID:1301938   PMID:1302612   PMID:1307230   PMID:1318511   PMID:1384323   PMID:1483696   PMID:1532289   PMID:1533633  
PMID:1825014   PMID:1825792   PMID:1827945   PMID:1829032   PMID:1830584   PMID:1832817   PMID:1833974   PMID:1837283   PMID:1996872   PMID:2137287   PMID:2140574   PMID:2141777  
PMID:2144098   PMID:2220821   PMID:2278539   PMID:2522660   PMID:2522679   PMID:2531748   PMID:2837213   PMID:2848800   PMID:2933746   PMID:2952641   PMID:2964446   PMID:2965147  
PMID:2970528   PMID:2971395   PMID:2973311   PMID:2973464   PMID:3013851   PMID:3362213   PMID:3375249   PMID:3754980   PMID:6230359   PMID:7717398   PMID:7837766   PMID:7887427  
PMID:7898712   PMID:7902672   PMID:7951261   PMID:8123671   PMID:8125298   PMID:8328470   PMID:8445615   PMID:8490625   PMID:8581357   PMID:8634145   PMID:8652542   PMID:8663217  
PMID:8672428   PMID:8673609   PMID:8757036   PMID:8889548   PMID:9090523   PMID:9150157   PMID:9217013   PMID:9222766   PMID:9272736   PMID:9338583   PMID:9375850   PMID:9401008  
PMID:9603435   PMID:9694901   PMID:10571007   PMID:11170098   PMID:11180612   PMID:12180151   PMID:12413610   PMID:12477932   PMID:14566483   PMID:14648242   PMID:14727180   PMID:15342556  
PMID:15345116   PMID:15489334   PMID:15953731   PMID:16088929   PMID:16169070   PMID:16212960   PMID:16698036   PMID:16710745   PMID:16776631   PMID:17474147   PMID:18217416   PMID:18425478  
PMID:18490185   PMID:19298806   PMID:19732345   PMID:19858779   PMID:19876898   PMID:19946888   PMID:20000738   PMID:20301397   PMID:21307379   PMID:21637923   PMID:21796138   PMID:21967858  
PMID:21997228   PMID:22147196   PMID:22268729   PMID:22441121   PMID:22723944   PMID:22789865   PMID:22863883   PMID:23370522   PMID:23376485   PMID:23533145   PMID:24389457   PMID:24518553  
PMID:25645918   PMID:25860343   PMID:26344197   PMID:26496610   PMID:26871637   PMID:27105913   PMID:27682588   PMID:28514442   PMID:28846871   PMID:28986522   PMID:29973161   PMID:31388111  
PMID:31536960   PMID:31586073   PMID:31682993  


Genomics

Comparative Map Data
HEXA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1572,340,924 - 72,376,420 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1572,340,919 - 72,376,476 (-)EnsemblGRCh38hg38GRCh38
GRCh381572,340,924 - 72,376,014 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371572,633,265 - 72,668,355 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361570,422,832 - 70,455,457 (-)NCBINCBI36hg18NCBI36
Build 341570,422,832 - 70,455,393NCBI
Celera1549,521,918 - 49,554,688 (-)NCBI
Cytogenetic Map15q23NCBI
HuRef1549,466,005 - 49,498,776 (-)NCBIHuRef
CHM1_11572,753,784 - 72,786,821 (-)NCBICHM1_1
Hexa
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39959,446,574 - 59,472,392 (+)NCBIGRCm39mm39
GRCm39 Ensembl959,446,823 - 59,472,392 (+)Ensembl
GRCm38959,539,540 - 59,565,109 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl959,539,540 - 59,565,109 (+)EnsemblGRCm38mm10GRCm38
MGSCv37959,387,474 - 59,412,912 (+)NCBIGRCm37mm9NCBIm37
MGSCv36959,337,673 - 59,363,111 (+)NCBImm8
Celera956,766,853 - 56,792,230 (+)NCBICelera
Cytogenetic Map9BNCBI
cM Map932.02NCBI
Hexa
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2859,936,526 - 59,961,654 (+)NCBI
Rnor_6.0 Ensembl864,325,435 - 64,350,773 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0864,325,435 - 64,350,775 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0864,087,247 - 64,112,587 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4863,363,219 - 63,388,146 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1863,382,272 - 63,407,200 (+)NCBI
Celera859,378,288 - 59,403,211 (+)NCBICelera
Cytogenetic Map8q24NCBI
Hexa
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_0049554504,790,342 - 4,806,862 (+)NCBIChiLan1.0ChiLan1.0
LOC100986229
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11570,034,232 - 70,090,688 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01551,235,123 - 51,326,832 (-)NCBIMhudiblu_PPA_v0panPan3
HEXA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13035,836,788 - 35,862,525 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hexa
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493647131,712,485 - 31,738,273 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEXA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1760,878,531 - 60,911,537 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2765,420,894 - 65,453,741 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEXA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12611,081,985 - 11,130,366 (+)NCBI
Hexa
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247811,686,818 - 1,706,044 (+)NCBI

Position Markers
RH98547  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,635,852 - 72,636,038UniSTSGRCh37
Build 361570,422,906 - 70,423,092RGDNCBI36
Celera1549,521,992 - 49,522,178RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,466,079 - 49,466,265UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
RH118806  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,641,423 - 72,641,696UniSTSGRCh37
Build 361570,428,477 - 70,428,750RGDNCBI36
Celera1549,527,563 - 49,527,836RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,471,650 - 49,471,923UniSTS
TNG Radiation Hybrid Map1527555.0UniSTS
GDB:176311  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,638,879 - 72,639,047UniSTSGRCh37
Build 361570,425,933 - 70,426,101RGDNCBI36
Celera1549,525,019 - 49,525,187RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,469,106 - 49,469,274UniSTS
GDB:176312  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,819 - 72,642,985UniSTSGRCh37
Build 361570,429,873 - 70,430,039RGDNCBI36
Celera1549,528,959 - 49,529,125RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,046 - 49,473,212UniSTS
GDB:177101  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,638,528 - 72,638,663UniSTSGRCh37
Build 361570,425,582 - 70,425,717RGDNCBI36
Celera1549,524,668 - 49,524,803RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,468,755 - 49,468,890UniSTS
GDB:177773  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,802 - 72,642,991UniSTSGRCh37
Build 361570,429,856 - 70,430,045RGDNCBI36
Celera1549,528,942 - 49,529,131RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,029 - 49,473,218UniSTS
GDB:186545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,668,051 - 72,668,402UniSTSGRCh37
Build 361570,455,105 - 70,455,456RGDNCBI36
Celera1549,554,219 - 49,554,570RGD
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map15q23UniSTS
HuRef1549,498,307 - 49,498,658UniSTS
GDB:186546  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,642,802 - 72,643,053UniSTSGRCh37
Build 361570,429,856 - 70,430,107RGDNCBI36
Celera1549,528,942 - 49,529,193RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,473,029 - 49,473,280UniSTS
RH44590  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,637,785 - 72,637,909UniSTSGRCh37
Build 361570,424,839 - 70,424,963RGDNCBI36
Celera1549,523,925 - 49,524,049RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,468,012 - 49,468,136UniSTS
GeneMap99-GB4 RH Map15256.69UniSTS
SHGC-33452  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,637,624 - 72,637,756UniSTSGRCh37
Build 361570,424,678 - 70,424,810RGDNCBI36
Celera1549,523,764 - 49,523,896RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,467,851 - 49,467,983UniSTS
TNG Radiation Hybrid Map1527567.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
Whitehead-RH Map15246.8UniSTS
NCBI RH Map15442.7UniSTS
GeneMap99-G3 RH Map152493.0UniSTS
WI-7120  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,636,050 - 72,636,391UniSTSGRCh37
Build 361570,423,104 - 70,423,445RGDNCBI36
Celera1549,522,190 - 49,522,531RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,466,277 - 49,466,618UniSTS
Whitehead-YAC Contig Map15 UniSTS
SHGC-35689  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371572,652,151 - 72,652,372UniSTSGRCh37
Build 361570,439,205 - 70,439,426RGDNCBI36
Celera1549,538,289 - 49,538,510RGD
Cytogenetic Map15q24.1UniSTS
HuRef1549,482,376 - 49,482,597UniSTS
Stanford-G3 RH Map152502.0UniSTS
GeneMap99-GB4 RH Map15253.26UniSTS
Whitehead-RH Map15246.8UniSTS
NCBI RH Map15442.7UniSTS
GeneMap99-G3 RH Map152497.0UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4716
Count of miRNA genes:1104
Interacting mature miRNAs:1390
Transcripts:ENST00000268097, ENST00000429918, ENST00000457859, ENST00000563762, ENST00000563908, ENST00000564677, ENST00000565873, ENST00000566304, ENST00000566672, ENST00000567027, ENST00000567159, ENST00000567213, ENST00000567411, ENST00000568260, ENST00000568777, ENST00000569116, ENST00000569410, ENST00000569509
Prediction methods:Miranda, 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.


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 2332 1982 1447 347 1134 203 3250 1063 2013 379 1383 1554 155 1199 1994 3
Low 93 1004 276 275 817 261 1105 1130 1697 39 66 53 16 5 794 1
Below cutoff 10 1 2 2 1 1 2 13 1 8 3 4 1 1 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001318825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_134869 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB675563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB675599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK222502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW088671 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC034424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC084537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM668409 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP356349 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537989 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471082 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC356933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN001325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178109 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S61298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S76984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S77043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268097   ⟹   ENSP00000268097
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,340,924 - 72,376,014 (-)Ensembl
RefSeq Acc Id: ENST00000563762   ⟹   ENSP00000456346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,345,977 - 72,375,972 (-)Ensembl
RefSeq Acc Id: ENST00000563908
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,355,444 - 72,375,969 (-)Ensembl
RefSeq Acc Id: ENST00000564677
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,343,887 - 72,345,889 (-)Ensembl
RefSeq Acc Id: ENST00000565873
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,343,857 - 72,345,882 (-)Ensembl
RefSeq Acc Id: ENST00000566304   ⟹   ENSP00000455114
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,343,926 - 72,375,993 (-)Ensembl
RefSeq Acc Id: ENST00000566672   ⟹   ENSP00000457037
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,346,132 - 72,376,003 (-)Ensembl
RefSeq Acc Id: ENST00000567027   ⟹   ENSP00000457521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,345,234 - 72,375,844 (-)Ensembl
RefSeq Acc Id: ENST00000567159   ⟹   ENSP00000456489
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,345,411 - 72,375,993 (-)Ensembl
RefSeq Acc Id: ENST00000567213   ⟹   ENSP00000478217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,369,959 - 72,375,989 (-)Ensembl
RefSeq Acc Id: ENST00000567411   ⟹   ENSP00000455545
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,343,908 - 72,376,003 (-)Ensembl
RefSeq Acc Id: ENST00000568260   ⟹   ENSP00000458128
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,351,132 - 72,375,953 (-)Ensembl
RefSeq Acc Id: ENST00000568777
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,345,283 - 72,360,453 (-)Ensembl
RefSeq Acc Id: ENST00000569116
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,345,230 - 72,345,804 (-)Ensembl
RefSeq Acc Id: ENST00000569410   ⟹   ENSP00000457125
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,346,235 - 72,375,975 (-)Ensembl
RefSeq Acc Id: ENST00000569509
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1572,350,580 - 72,376,420 (-)Ensembl
RefSeq Acc Id: NM_000520   ⟹   NP_000511
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,340,924 - 72,376,014 (-)NCBI
GRCh371572,635,778 - 72,669,474 (-)NCBI
Build 361570,422,832 - 70,455,457 (-)NCBI Archive
HuRef1549,466,005 - 49,498,776 (-)ENTREZGENE
CHM1_11572,753,784 - 72,786,821 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001318825   ⟹   NP_001305754
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,340,924 - 72,376,014 (-)NCBI
CHM1_11572,753,784 - 72,786,821 (-)NCBI
Sequence:
RefSeq Acc Id: NR_134869
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,345,229 - 72,376,014 (-)NCBI
CHM1_11572,755,553 - 72,786,821 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000511 (Get FASTA)   NCBI Sequence Viewer  
  NP_001305754 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA51827 (Get FASTA)   NCBI Sequence Viewer  
  AAB00965 (Get FASTA)   NCBI Sequence Viewer  
  AAB33748 (Get FASTA)   NCBI Sequence Viewer  
  AAD13927 (Get FASTA)   NCBI Sequence Viewer  
  AAD13932 (Get FASTA)   NCBI Sequence Viewer  
  AAD14242 (Get FASTA)   NCBI Sequence Viewer  
  AAD14243 (Get FASTA)   NCBI Sequence Viewer  
  AAD14246 (Get FASTA)   NCBI Sequence Viewer  
  AAH01138 (Get FASTA)   NCBI Sequence Viewer  
  AAH18927 (Get FASTA)   NCBI Sequence Viewer  
  AAH84537 (Get FASTA)   NCBI Sequence Viewer  
  AER36552 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33567 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33568 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33569 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33570 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33571 (Get FASTA)   NCBI Sequence Viewer  
  BAD96222 (Get FASTA)   NCBI Sequence Viewer  
  BAG59159 (Get FASTA)   NCBI Sequence Viewer  
  BAG60039 (Get FASTA)   NCBI Sequence Viewer  
  BAG62619 (Get FASTA)   NCBI Sequence Viewer  
  BAG62730 (Get FASTA)   NCBI Sequence Viewer  
  BAL04456 (Get FASTA)   NCBI Sequence Viewer  
  BAL04457 (Get FASTA)   NCBI Sequence Viewer  
  BAL04458 (Get FASTA)   NCBI Sequence Viewer  
  BAL04459 (Get FASTA)   NCBI Sequence Viewer  
  BAL04460 (Get FASTA)   NCBI Sequence Viewer  
  BAL04461 (Get FASTA)   NCBI Sequence Viewer  
  BAL04462 (Get FASTA)   NCBI Sequence Viewer  
  BAL04463 (Get FASTA)   NCBI Sequence Viewer  
  CAH10482 (Get FASTA)   NCBI Sequence Viewer  
  EAW77902 (Get FASTA)   NCBI Sequence Viewer  
  P06865 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_000511   ⟸   NM_000520
- Peptide Label: isoform 2 preproprotein
- UniProtKB: P06865 (UniProtKB/Swiss-Prot),   A0A0S2Z3W3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001305754   ⟸   NM_001318825
- Peptide Label: isoform 1 precursor
- UniProtKB: P06865 (UniProtKB/Swiss-Prot),   B4DVA7 (UniProtKB/TrEMBL),   H3BP20 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000457125   ⟸   ENST00000569410
RefSeq Acc Id: ENSP00000268097   ⟸   ENST00000268097
RefSeq Acc Id: ENSP00000456346   ⟸   ENST00000563762
RefSeq Acc Id: ENSP00000457037   ⟸   ENST00000566672
RefSeq Acc Id: ENSP00000455114   ⟸   ENST00000566304
RefSeq Acc Id: ENSP00000456489   ⟸   ENST00000567159
RefSeq Acc Id: ENSP00000457521   ⟸   ENST00000567027
RefSeq Acc Id: ENSP00000455545   ⟸   ENST00000567411
RefSeq Acc Id: ENSP00000478217   ⟸   ENST00000567213
RefSeq Acc Id: ENSP00000458128   ⟸   ENST00000568260
Protein Domains
Glyco_hydro_20   Glycohydro_20b2

Promoters
RGD ID:6810761
Promoter ID:HG_ACW:27219
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:FYJAWBY.AAPR07-UNSPLICED,   HEXAANDBRUNOL6.NAPR07,   HEXAANDBRUNOL6.OAPR07-UNSPLICED,   HEXAANDBRUNOL6.QAPR07,   HEXAANDBRUNOL6.SAPR07,   HEXAANDBRUNOL6.VAAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,424,686 - 70,425,186 (-)MPROMDB
RGD ID:6792137
Promoter ID:HG_KWN:21838
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid
Transcripts:OTTHUMT00000257317,   UC002AUK.2,   UC002AUO.2,   UC010BIX.1,   UC010BIY.1,   UC010BIZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,455,206 - 70,455,706 (-)MPROMDB
RGD ID:6852280
Promoter ID:EP73946
Type:initiation region
Name:HS_HEXA
Description:Hexosaminidase A (alpha polypeptide).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 361570,455,376 - 70,455,436EPD
RGD ID:7230017
Promoter ID:EPDNEW_H20753
Type:initiation region
Name:HEXA_1
Description:hexosaminidase subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20754  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,376,014 - 72,376,074EPDNEW
RGD ID:7230015
Promoter ID:EPDNEW_H20754
Type:initiation region
Name:HEXA_2
Description:hexosaminidase subunit alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H20753  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381572,376,419 - 72,376,479EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000520.6(HEXA):c.173G>A (p.Cys58Tyr) single nucleotide variant Tay-Sachs disease [RCV000023580] Chr15:72375800 [GRCh38]
Chr15:72668141 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.5(HEXA):c.-207-2357_253+5128delinsG indel Tay-Sachs disease [RCV000004095] Chr15:72370592..72378536 [GRCh38]
Chr15:72662933..72670877 [GRCh37]
Chr15:15q23-q24
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs) duplication Inborn genetic diseases [RCV000623223]|Intellectual disability [RCV001252517]|Tay-Sachs disease [RCV000004093]|Tay-Sachs disease, variant AB [RCV001250227]|not provided [RCV000224443] Chr15:72346579..72346580 [GRCh38]
Chr15:72638921..72638924 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.1421+1G>C single nucleotide variant Tay-Sachs disease [RCV000004094]|not provided [RCV000255737] Chr15:72346234 [GRCh38]
Chr15:72638575 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1444G>A (p.Glu482Lys) single nucleotide variant Tay-Sachs disease [RCV000004096] Chr15:72345528 [GRCh38]
Chr15:72637869 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.346+1G>C single nucleotide variant Tay-Sachs disease [RCV000004097] Chr15:72356524 [GRCh38]
Chr15:72648865 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1510del (p.Arg504fs) deletion Tay-Sachs disease [RCV000004098] Chr15:72345462 [GRCh38]
Chr15:72637803 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1511G>A (p.Arg504His) single nucleotide variant Gm2-gangliosidosis, juvenile [RCV000004099]|Tay-Sachs disease [RCV000409695] Chr15:72345461 [GRCh38]
Chr15:72637802 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.533G>A (p.Arg178His) single nucleotide variant Global developmental delay [RCV001255389]|Hexa, dn allele [RCV000004101]|Tay-Sachs disease [RCV000409508]|Tay-Sachs disease, B1 variant [RCV000004100]|not provided [RCV000396083] Chr15:72353105 [GRCh38]
Chr15:72645446 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.532C>T (p.Arg178Cys) single nucleotide variant HEXA, Czechoslovakian allele [RCV000004103]|Tay-Sachs disease [RCV000416435]|Tay-Sachs disease, B1 variant [RCV000004102] Chr15:72353106 [GRCh38]
Chr15:72645447 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) single nucleotide variant Gm2-gangliosidosis, adult [RCV000004104]|Tay-Sachs disease [RCV000168285]|not provided [RCV000434025] Chr15:72350518 [GRCh38]
Chr15:72642859 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.1496G>A (p.Arg499His) single nucleotide variant Gm2-gangliosidosis, juvenile [RCV000004105]|Inborn genetic diseases [RCV000210735]|Tay-Sachs disease [RCV000338961]|not provided [RCV000520531] Chr15:72345476 [GRCh38]
Chr15:72637817 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|uncertain significance
NM_000520.6(HEXA):c.509G>A (p.Arg170Gln) single nucleotide variant Tay-Sachs disease [RCV000004106]|not provided [RCV000336253] Chr15:72353129 [GRCh38]
Chr15:72645470 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.1260G>C (p.Trp420Cys) single nucleotide variant Tay-Sachs disease [RCV000004107] Chr15:72346597 [GRCh38]
Chr15:72638938 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.749G>A (p.Gly250Asp) single nucleotide variant Tay-sachs disease, juvenile [RCV000004108] Chr15:72350574 [GRCh38]
Chr15:72642915 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.4(HEXA):c.910_912delTTC (p.Phe305del) deletion Tay-Sachs disease [RCV000004109] Chr15:72349153..72349155 [GRCh38]
Chr15:72641494..72641496 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.409C>T (p.Arg137Ter) single nucleotide variant Tay-Sachs disease [RCV000004110]|not provided [RCV000255817] Chr15:72355562 [GRCh38]
Chr15:72647903 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1177C>T (p.Arg393Ter) single nucleotide variant Tay-Sachs disease [RCV000004111]|not provided [RCV000522695] Chr15:72346680 [GRCh38]
Chr15:72639021 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) single nucleotide variant Gm2-gangliosidosis, chronic [RCV000004112]|Tay-Sachs disease [RCV000169084]|not specified [RCV001000970] Chr15:72345462 [GRCh38]
Chr15:72637803 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
HEXA, IVS4, G-T, -1 single nucleotide variant Tay-Sachs disease [RCV000004113] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.629C>T (p.Ser210Phe) single nucleotide variant Tay-Sachs disease [RCV000004114] Chr15:72351176 [GRCh38]
Chr15:72643517 [GRCh37]
Chr15:15q23
pathogenic
HEXA, 5-BP DEL, TCTCC, IVS9 deletion Tay-Sachs disease [RCV000004115] Chr15:15q23-q24 pathogenic
HEXA, 2-BP DEL, TG, EX5 deletion Tay-Sachs disease [RCV000004116] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.78G>A (p.Trp26Ter) single nucleotide variant Tay-Sachs disease [RCV000004117] Chr15:72375895 [GRCh38]
Chr15:72668236 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.533G>T (p.Arg178Leu) single nucleotide variant Tay-Sachs disease [RCV000004118] Chr15:72353105 [GRCh38]
Chr15:72645446 [GRCh37]
Chr15:15q23
pathogenic
HEXA, IVS2, G-A, +1 single nucleotide variant Tay-Sachs disease [RCV000004119] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.1A>G (p.Met1Val) single nucleotide variant Tay-Sachs disease [RCV000004120] Chr15:72375972 [GRCh38]
Chr15:72668313 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys) single nucleotide variant Gm2-gangliosidosis, adult-onset [RCV000004121]|Tay-Sachs disease [RCV000169417] Chr15:72345477 [GRCh38]
Chr15:72637818 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter) single nucleotide variant Gm2-gangliosidosis, variant b1 [RCV000004122] Chr15:72348134 [GRCh38]
Chr15:72640475 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1453T>C (p.Trp485Arg) single nucleotide variant Tay-Sachs disease [RCV000004123] Chr15:72345519 [GRCh38]
Chr15:72637860 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.546dup (p.Leu183fs) duplication Tay-Sachs disease [RCV000004124] Chr15:72353091..72353092 [GRCh38]
Chr15:72645432..72645433 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.540C>G (p.Tyr180Ter) single nucleotide variant Tay-Sachs disease [RCV000004125] Chr15:72353098 [GRCh38]
Chr15:72645439 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1073+1G>A single nucleotide variant Tay-Sachs disease [RCV000004126]|not provided [RCV000079047] Chr15:72348047 [GRCh38]
Chr15:72640388 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.959_961GAG[1] (p.Gly321del) microsatellite Tay-Sachs disease, B1 variant [RCV000004127] Chr15:72349101..72349103 [GRCh38]
Chr15:72641442..72641444 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) single nucleotide variant Beta-hexosaminidase a, pseudodeficiency of [RCV000004128]|Tay-Sachs disease [RCV000549043]|not provided [RCV000279029]|not specified [RCV000242608] Chr15:72350584 [GRCh38]
Chr15:72642925 [GRCh37]
Chr15:15q23
pathogenic|benign|conflicting interpretations of pathogenicity|uncertain significance|other
NM_000520.6(HEXA):c.772G>C (p.Asp258His) single nucleotide variant Tay-Sachs disease [RCV000801596]|Tay-Sachs disease, B1 variant [RCV000004130] Chr15:72350551 [GRCh38]
Chr15:72642892 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp) single nucleotide variant Tay-Sachs disease [RCV000004131] Chr15:72353130 [GRCh38]
Chr15:72645471 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
HEXA, 2-BP DEL, CODON 310 deletion Tay-Sachs disease [RCV000004132] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.590A>C (p.Lys197Thr) single nucleotide variant Gm2-gangliosidosis, late onset [RCV000004133]|Tay-Sachs disease [RCV000674617] Chr15:72351215 [GRCh38]
Chr15:72643556 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.672+1G>A single nucleotide variant Tay-Sachs disease [RCV000412214]|Tay-sachs disease, juvenile/adult [RCV000004134]|not provided [RCV000432194] Chr15:72351132 [GRCh38]
Chr15:72643473 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.632T>C (p.Phe211Ser) single nucleotide variant Tay-Sachs disease [RCV000004135] Chr15:72351173 [GRCh38]
Chr15:72643514 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.380T>G (p.Leu127Arg) single nucleotide variant Tay-Sachs disease [RCV000004136] Chr15:72355591 [GRCh38]
Chr15:72647932 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.611A>G (p.His204Arg) single nucleotide variant Tay-Sachs disease [RCV000004137] Chr15:72351194 [GRCh38]
Chr15:72643535 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.425_426del (p.Thr141_Phe142insTer) deletion Tay-Sachs disease [RCV000004138] Chr15:72353724..72353725 [GRCh38]
Chr15:72646065..72646066 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.902T>G (p.Met301Arg) single nucleotide variant Tay-Sachs disease [RCV000004139]|Tay-Sachs disease, variant AB [RCV001250228] Chr15:72349163 [GRCh38]
Chr15:72641504 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.1360G>A (p.Gly454Ser) single nucleotide variant Tay-Sachs disease [RCV000004140] Chr15:72346296 [GRCh38]
Chr15:72638637 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.116T>G (p.Leu39Arg) single nucleotide variant Tay-Sachs disease [RCV000004141] Chr15:72375857 [GRCh38]
Chr15:72668198 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter) single nucleotide variant Tay-Sachs disease [RCV000004142] Chr15:72346681 [GRCh38]
Chr15:72639022 [GRCh37]
Chr15:15q23
pathogenic
HEXA, IVS7, G-A, +1 single nucleotide variant Tay-Sachs disease [RCV000004143] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.805+1G>A single nucleotide variant Gm2-gangliosidosis, late onset [RCV000004144]|Tay-Sachs disease [RCV000409276] Chr15:72350517 [GRCh38]
Chr15:72642858 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.538T>C (p.Tyr180His) single nucleotide variant Gm2-gangliosidosis, late onset [RCV000004145] Chr15:72353100 [GRCh38]
Chr15:72645441 [GRCh37]
Chr15:15q23
pathogenic
HEXA, IVS7, G-A, -7 single nucleotide variant Gm2-gangliosidosis, chronic [RCV000004146] Chr15:15q23-q24 pathogenic
NM_000520.6(HEXA):c.1422G>C (p.Trp474Cys) single nucleotide variant Gm2-gangliosidosis, subacute [RCV000004147]|Tay-Sachs disease [RCV001244261] Chr15:72345550 [GRCh38]
Chr15:72637891 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1351C>G (p.Leu451Val) single nucleotide variant Tay-Sachs disease [RCV000004148] Chr15:72346305 [GRCh38]
Chr15:72638646 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.972T>A (p.Val324=) single nucleotide variant Gm2-gangliosidosis, subacute [RCV000004149] Chr15:72349093 [GRCh38]
Chr15:72641434 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1A>C (p.Met1Leu) single nucleotide variant Tay-Sachs disease [RCV000758203] Chr15:72375972 [GRCh38]
Chr15:72668313 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=) single nucleotide variant Inborn genetic diseases [RCV000624856]|Tay-Sachs disease [RCV000087095] Chr15:72346552 [GRCh38]
Chr15:72638893 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000520.6(HEXA):c.718_719insT (p.Lys240fs) insertion Tay-Sachs disease [RCV000087096] Chr15:72350604..72350605 [GRCh38]
Chr15:72642945..72642946 [GRCh37]
Chr15:15q23
pathogenic
GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1 copy number loss See cases [RCV000050780] Chr15:68830574..73823337 [GRCh38]
Chr15:69122913..74115678 [GRCh37]
Chr15:66909967..71902731 [NCBI36]
Chr15:15q23-24.1
pathogenic
GRCh38/hg38 15q23-24.1(chr15:72058544-72481033)x3 copy number gain See cases [RCV000052106] Chr15:72058544..72481033 [GRCh38]
Chr15:72350885..72773374 [GRCh37]
Chr15:70137939..70560428 [NCBI36]
Chr15:15q23-24.1
uncertain significance
GRCh38/hg38 15q23-24.2(chr15:70788624-76057736)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053219]|See cases [RCV000053219] Chr15:70788624..76057736 [GRCh38]
Chr15:71080963..76350077 [GRCh37]
Chr15:68868017..74137132 [NCBI36]
Chr15:15q23-24.2
pathogenic
NM_000520.6(HEXA):c.1195A>G (p.Asn399Asp) single nucleotide variant Tay-Sachs disease [RCV000399795]|none provided [RCV001282114]|not provided [RCV000224180]|not specified [RCV000079048] Chr15:72346662 [GRCh38]
Chr15:72639003 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1306A>G (p.Ile436Val) single nucleotide variant Tay-Sachs disease [RCV000283218]|none provided [RCV001283651]|not provided [RCV000675467]|not specified [RCV000079049] Chr15:72346551 [GRCh38]
Chr15:72638892 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000520.6(HEXA):c.1397A>G (p.Asn466Ser) single nucleotide variant Tay-Sachs disease [RCV000377261]|not provided [RCV000079050] Chr15:72346259 [GRCh38]
Chr15:72638600 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.1518A>G (p.Glu506=) single nucleotide variant Tay-Sachs disease [RCV000291094]|none provided [RCV001283650]|not provided [RCV000675466]|not specified [RCV000079051] Chr15:72345454 [GRCh38]
Chr15:72637795 [GRCh37]
Chr15:15q23
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000520.6(HEXA):c.497G>A (p.Arg166His) single nucleotide variant Tay-Sachs disease [RCV000671243]|none provided [RCV001285474]|not provided [RCV000079052] Chr15:72353141 [GRCh38]
Chr15:72645482 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.9C>T (p.Ser3=) single nucleotide variant Tay-Sachs disease [RCV000313948]|none provided [RCV001283668]|not provided [RCV000675469]|not specified [RCV000079053] Chr15:72375964 [GRCh38]
Chr15:72668305 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
Single allele duplication Tay-Sachs disease [RCV000174008] Chr15:72638920..72638921 [GRCh37] pathogenic
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) single nucleotide variant Tay-Sachs disease [RCV000190592]|not provided [RCV000375852] Chr15:72350578 [GRCh38]
Chr15:72642919 [GRCh37]
Chr15:15q23
benign|other
NM_000520.6(HEXA):c.1527-6T>C single nucleotide variant Tay-Sachs disease [RCV000462401]|not provided [RCV000724516]|not specified [RCV000246203] Chr15:72344146 [GRCh38]
Chr15:72636487 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.1178G>C (p.Arg393Pro) single nucleotide variant Tay-Sachs disease [RCV000202576] Chr15:72346679 [GRCh38]
Chr15:72639020 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1385A>T (p.Glu462Val) single nucleotide variant Tay-Sachs disease [RCV000202369] Chr15:72346271 [GRCh38]
Chr15:72638612 [GRCh37]
Chr15:15q23
pathogenic
GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1 copy number loss See cases [RCV000136699] Chr15:72366869..72671688 [GRCh38]
Chr15:72659210..72964029 [GRCh37]
Chr15:70446264..70751082 [NCBI36]
Chr15:15q23-24.1
pathogenic|uncertain significance
GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1 copy number loss See cases [RCV000141666] Chr15:70025300..78705993 [GRCh38]
Chr15:70317639..78998335 [GRCh37]
Chr15:68104693..76785390 [NCBI36]
Chr15:15q23-25.1
pathogenic
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3
pathogenic
GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3 copy number gain See cases [RCV000143019] Chr15:72154949..101920998 [GRCh38]
Chr15:72447290..102461201 [GRCh37]
Chr15:70234344..100278724 [NCBI36]
Chr15:15q23-26.3
pathogenic
NM_000520.6(HEXA):c.298G>T (p.Val100Phe) single nucleotide variant not provided [RCV000175616] Chr15:72356573 [GRCh38]
Chr15:72648914 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.912_914CTT[1] (p.Phe305del) microsatellite Inborn genetic diseases [RCV000622988]|Tay-Sachs disease [RCV000169148] Chr15:72349148..72349150 [GRCh38]
Chr15:72641489..72641491 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.947dup (p.Tyr316Ter) duplication Tay-Sachs disease [RCV000169207] Chr15:72349117..72349118 [GRCh38]
Chr15:72641458..72641459 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.986+3A>G single nucleotide variant Tay-Sachs disease [RCV000169296] Chr15:72349076 [GRCh38]
Chr15:72641417 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter) single nucleotide variant Tay-Sachs disease [RCV000169328]|not provided [RCV000421085] Chr15:72344139 [GRCh38]
Chr15:72636480 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs) deletion Tay-Sachs disease [RCV000169438] Chr15:72346549..72346550 [GRCh38]
Chr15:72638890..72638891 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) single nucleotide variant Tay-Sachs disease [RCV000169541]|not provided [RCV000255876] Chr15:72375971 [GRCh38]
Chr15:72668312 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.1123del (p.Glu375fs) deletion Tay-Sachs disease [RCV000169594]|not provided [RCV001268863] Chr15:72347709 [GRCh38]
Chr15:72640050 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.570+1G>A single nucleotide variant Tay-Sachs disease [RCV000169610] Chr15:72353067 [GRCh38]
Chr15:72645408 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.536A>G (p.His179Arg) single nucleotide variant not provided [RCV000520360] Chr15:72353102 [GRCh38]
Chr15:72645443 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.806-7G>A single nucleotide variant Gm2-gangliosidosis, chronic [RCV000004146]|Tay-Sachs disease [RCV000191092]|none provided [RCV001285271]|not specified [RCV000780338] Chr15:72349266 [GRCh38]
Chr15:72641607 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.964G>T (p.Asp322Tyr) single nucleotide variant Tay-Sachs disease [RCV000207019] Chr15:72349101 [GRCh38]
Chr15:72641442 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.964G>A (p.Asp322Asn) single nucleotide variant Tay-Sachs disease [RCV000207246] Chr15:72349101 [GRCh38]
Chr15:72641442 [GRCh37]
Chr15:15q23
pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.260G>A (p.Arg87Gln) single nucleotide variant Tay-Sachs disease [RCV000670518] Chr15:72356611 [GRCh38]
Chr15:72648952 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1526+1G>T single nucleotide variant Tay-Sachs disease [RCV000669977] Chr15:72345445 [GRCh38]
Chr15:72637786 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1231G>A (p.Gly411Ser) single nucleotide variant Tay-Sachs disease [RCV000670546]|not provided [RCV000865978] Chr15:72346626 [GRCh38]
Chr15:72638967 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.211C>G (p.Leu71Val) single nucleotide variant Tay-Sachs disease [RCV000670548] Chr15:72375762 [GRCh38]
Chr15:72668103 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.134A>C (p.Gln45Pro) single nucleotide variant Tay-Sachs disease [RCV000670561] Chr15:72375839 [GRCh38]
Chr15:72668180 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.53G>A (p.Gly18Glu) single nucleotide variant Tay-Sachs disease [RCV000670568] Chr15:72375920 [GRCh38]
Chr15:72668261 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.304C>T (p.Pro102Ser) single nucleotide variant Tay-Sachs disease [RCV000670593] Chr15:72356567 [GRCh38]
Chr15:72648908 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.340G>A (p.Glu114Lys) single nucleotide variant Tay-Sachs disease [RCV000203235] Chr15:72356531 [GRCh38]
Chr15:72648872 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
Single allele insertion not provided [RCV000224443] Chr15:72638920..72638921 [GRCh37] pathogenic
NM_000520.6(HEXA):c.1337C>G (p.Pro446Arg) single nucleotide variant not provided [RCV000757371] Chr15:72346319 [GRCh38]
Chr15:72638660 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.139_140delinsT (p.Gln47fs) indel Tay-Sachs disease [RCV000669445] Chr15:72375833..72375834 [GRCh38]
Chr15:72668174..72668175 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.672+30T>G single nucleotide variant Tay-Sachs disease [RCV000416442]|not provided [RCV000675468]|not specified [RCV000250930] Chr15:72351103 [GRCh38]
Chr15:72643444 [GRCh37]
Chr15:15q23
pathogenic|benign
NM_000520.6(HEXA):c.1331-46G>A single nucleotide variant not specified [RCV000251209] Chr15:72346371 [GRCh38]
Chr15:72638712 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.806-48G>T single nucleotide variant not specified [RCV000252132] Chr15:72349307 [GRCh38]
Chr15:72641648 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.759G>A (p.Val253=) single nucleotide variant Tay-Sachs disease [RCV000475714]|none provided [RCV001283652]|not provided [RCV001092608]|not specified [RCV000247584] Chr15:72350564 [GRCh38]
Chr15:72642905 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3
pathogenic
NM_000520.6(HEXA):c.1074-43C>G single nucleotide variant not specified [RCV000248267] Chr15:72347801 [GRCh38]
Chr15:72640142 [GRCh37]
Chr15:15q23
benign
NM_000520.5(HEXA):c.-59G>A single nucleotide variant Tay-Sachs disease [RCV000269335] Chr15:72376031 [GRCh38]
Chr15:72668372 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.64G>A (p.Ala22Thr) single nucleotide variant Tay-Sachs disease [RCV000277510] Chr15:72375909 [GRCh38]
Chr15:72668250 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.*515G>A single nucleotide variant Tay-Sachs disease [RCV000275354] Chr15:72343562 [GRCh38]
Chr15:72635903 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.346+13C>T single nucleotide variant Tay-Sachs disease [RCV000299684] Chr15:72356512 [GRCh38]
Chr15:72648853 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.1107C>T (p.Gly369=) single nucleotide variant Tay-Sachs disease [RCV000298559]|none provided [RCV001000579]|not provided [RCV000860701] Chr15:72347725 [GRCh38]
Chr15:72640066 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.6(HEXA):c.*589T>G single nucleotide variant Tay-Sachs disease [RCV000301101] Chr15:72343488 [GRCh38]
Chr15:72635829 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) single nucleotide variant Tay-Sachs disease [RCV000505691]|not provided [RCV000862163]|not specified [RCV000384004] Chr15:72345537 [GRCh38]
Chr15:72637878 [GRCh37]
Chr15:15q23
benign|likely benign|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.*76G>A single nucleotide variant Tay-Sachs disease [RCV000326217] Chr15:72344001 [GRCh38]
Chr15:72636342 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.5(HEXA):c.-136G>A single nucleotide variant Tay-Sachs disease [RCV000329152] Chr15:72376108 [GRCh38]
Chr15:72668449 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.*436C>T single nucleotide variant Tay-Sachs disease [RCV000329902] Chr15:72343641 [GRCh38]
Chr15:72635982 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1033G>A (p.Gly345Ser) single nucleotide variant Tay-Sachs disease [RCV000334575] Chr15:72348088 [GRCh38]
Chr15:72640429 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1216C>T (p.Leu406=) single nucleotide variant Tay-Sachs disease [RCV000342855]|not provided [RCV000861714] Chr15:72346641 [GRCh38]
Chr15:72638982 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.6(HEXA):c.1421+14G>C single nucleotide variant Tay-Sachs disease [RCV000345918] Chr15:72346221 [GRCh38]
Chr15:72638562 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.*575G>A single nucleotide variant Tay-Sachs disease [RCV000356012] Chr15:72343502 [GRCh38]
Chr15:72635843 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.*200T>C single nucleotide variant Tay-Sachs disease [RCV000275877] Chr15:72343877 [GRCh38]
Chr15:72636218 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.-4G>A single nucleotide variant Tay-Sachs disease [RCV000363844]|not provided [RCV000675470] Chr15:72375976 [GRCh38]
Chr15:72668317 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.271G>A (p.Glu91Lys) single nucleotide variant Tay-Sachs disease [RCV000368368] Chr15:72356600 [GRCh38]
Chr15:72648941 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.*12C>T single nucleotide variant Tay-Sachs disease [RCV000380815] Chr15:72344065 [GRCh38]
Chr15:72636406 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.*355C>G single nucleotide variant Tay-Sachs disease [RCV000389133] Chr15:72343722 [GRCh38]
Chr15:72636063 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.38C>T (p.Ala13Val) single nucleotide variant Tay-Sachs disease [RCV000670556]|not provided [RCV000261357] Chr15:72375935 [GRCh38]
Chr15:72668276 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.673-13T>C single nucleotide variant Tay-Sachs disease [RCV000408347] Chr15:72350663 [GRCh38]
Chr15:72643004 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.*630A>G single nucleotide variant Tay-Sachs disease [RCV000259986] Chr15:72343447 [GRCh38]
Chr15:72635788 [GRCh37]
Chr15:15q23
likely benign
NR_134869.1(HEXA):n.335G>A single nucleotide variant Tay-Sachs disease [RCV000265963] Chr15:72376139 [GRCh38]
Chr15:72668480 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter) single nucleotide variant Tay-Sachs disease [RCV001269254] Chr15:72375870 [GRCh38]
Chr15:72668211 [GRCh37]
Chr15:15q23
likely pathogenic
NR_134869.1(HEXA):n.295A>G single nucleotide variant Tay-Sachs disease [RCV000380387] Chr15:72376179 [GRCh38]
Chr15:72668520 [GRCh37]
Chr15:15q23
uncertain significance
NR_134869.1(HEXA):n.361G>A single nucleotide variant Tay-Sachs disease [RCV000383739] Chr15:72376113 [GRCh38]
Chr15:72668454 [GRCh37]
Chr15:15q23
uncertain significance
NR_134869.1(HEXA):n.321T>C single nucleotide variant Tay-Sachs disease [RCV000321085] Chr15:72376153 [GRCh38]
Chr15:72668494 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter) single nucleotide variant Tay-Sachs disease [RCV000984274]|not provided [RCV000520763] Chr15:72375740 [GRCh38]
Chr15:72668081 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.21G>A (p.Trp7Ter) single nucleotide variant not provided [RCV000627339] Chr15:72375952 [GRCh38]
Chr15:72668293 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.548T>A (p.Leu183His) single nucleotide variant Tay-Sachs disease [RCV000670879]|not provided [RCV000860726]|not specified [RCV000590199] Chr15:72353090 [GRCh38]
Chr15:72645431 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.6(HEXA):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000596803] Chr15:72375972 [GRCh38]
Chr15:72668313 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.72G>T (p.Trp24Cys) single nucleotide variant Tay-Sachs disease [RCV001052312]|not provided [RCV000584891] Chr15:72375901 [GRCh38]
Chr15:72668242 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.574G>A (p.Val192Ile) single nucleotide variant not provided [RCV000586917] Chr15:72351231 [GRCh38]
Chr15:72643572 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.24_25del (p.Ser9fs) deletion Tay-Sachs disease [RCV000409425] Chr15:72375948..72375949 [GRCh38]
Chr15:72668289..72668290 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1302C>G (p.Phe434Leu) single nucleotide variant not provided [RCV000415737] Chr15:72346555 [GRCh38]
Chr15:72638896 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1421G>A (p.Trp474Ter) single nucleotide variant Tay-Sachs disease [RCV000409611] Chr15:72346235 [GRCh38]
Chr15:72638576 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.26C>A (p.Ser9Ter) single nucleotide variant Tay-Sachs disease [RCV000409696] Chr15:72375947 [GRCh38]
Chr15:72668288 [GRCh37]
Chr15:15q23
likely pathogenic
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3
likely pathogenic
NM_000520.6(HEXA):c.1330+1G>A single nucleotide variant Tay-Sachs disease [RCV000410148]|not provided [RCV000438026] Chr15:72346526 [GRCh38]
Chr15:72638867 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.183_193del (p.Asp62fs) deletion Tay-Sachs disease [RCV000410519] Chr15:72375780..72375790 [GRCh38]
Chr15:72668121..72668131 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.82C>T (p.Gln28Ter) single nucleotide variant Tay-Sachs disease [RCV000410898] Chr15:72375891 [GRCh38]
Chr15:72668232 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.459+5G>A single nucleotide variant Tay-Sachs disease [RCV000416449]|not provided [RCV000416159] Chr15:72353686 [GRCh38]
Chr15:72646027 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.806-1G>C single nucleotide variant Tay-Sachs disease [RCV000411061] Chr15:72349260 [GRCh38]
Chr15:72641601 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1150C>T (p.Gln384Ter) single nucleotide variant Tay-Sachs disease [RCV000411081] Chr15:72346707 [GRCh38]
Chr15:72639048 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.253+1G>A single nucleotide variant Tay-Sachs disease [RCV000411110] Chr15:72375719 [GRCh38]
Chr15:72668060 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1043_1046del (p.Phe348fs) deletion Tay-Sachs disease [RCV000411211] Chr15:72348075..72348078 [GRCh38]
Chr15:72640416..72640419 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.196C>T (p.Gln66Ter) single nucleotide variant Tay-Sachs disease [RCV000411228] Chr15:72375777 [GRCh38]
Chr15:72668118 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.709C>T (p.Gln237Ter) single nucleotide variant Tay-Sachs disease [RCV000411560] Chr15:72350614 [GRCh38]
Chr15:72642955 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.436del (p.Val146fs) deletion Tay-Sachs disease [RCV000411678] Chr15:72353714 [GRCh38]
Chr15:72646055 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.465del (p.Phe155fs) deletion Tay-Sachs disease [RCV000411940] Chr15:72353173 [GRCh38]
Chr15:72645514 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.60_61dup (p.Thr21fs) duplication Tay-Sachs disease [RCV000412167] Chr15:72375911..72375912 [GRCh38]
Chr15:72668252..72668253 [GRCh37]
Chr15:15q23
likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3
pathogenic
NM_000520.6(HEXA):c.748G>A (p.Gly250Ser) single nucleotide variant Tay-Sachs disease [RCV000675102]|not provided [RCV000443171] Chr15:72350575 [GRCh38]
Chr15:72642916 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.155C>A (p.Ser52Ter) single nucleotide variant Tay-Sachs disease [RCV000780337]|not provided [RCV000430851] Chr15:72375818 [GRCh38]
Chr15:72668159 [GRCh37]
Chr15:15q23
pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000520.6(HEXA):c.1360G>C (p.Gly454Arg) single nucleotide variant Tay-Sachs disease [RCV000416429] Chr15:72346296 [GRCh38]
Chr15:72638637 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg) single nucleotide variant Tay-Sachs disease [RCV000416443] Chr15:72350518 [GRCh38]
Chr15:72642859 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.805+1G>C single nucleotide variant Tay-Sachs disease [RCV000416460] Chr15:72350517 [GRCh38]
Chr15:72642858 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.460-1G>A single nucleotide variant Tay-Sachs disease [RCV000416480] Chr15:72353179 [GRCh38]
Chr15:72645520 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter) single nucleotide variant Tay-Sachs disease [RCV000416452] Chr15:72356555 [GRCh38]
Chr15:72648896 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.616G>C (p.Val206Leu) single nucleotide variant Tay-Sachs disease [RCV000416461] Chr15:72351189 [GRCh38]
Chr15:72643530 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.898_905del (p.Phe300fs) deletion Tay-Sachs disease [RCV000416413] Chr15:72349160..72349167 [GRCh38]
Chr15:72641501..72641508 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.637T>C (p.Tyr213His) single nucleotide variant Tay-Sachs disease [RCV000416415] Chr15:72351168 [GRCh38]
Chr15:72643509 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.788C>T (p.Thr263Ile) single nucleotide variant Tay-Sachs disease [RCV000416422] Chr15:72350535 [GRCh38]
Chr15:72642876 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1454G>A (p.Trp485Ter) single nucleotide variant Tay-Sachs disease [RCV000416424] Chr15:72345518 [GRCh38]
Chr15:72637859 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.459+4A>C single nucleotide variant Tay-Sachs disease [RCV000416426] Chr15:72353687 [GRCh38]
Chr15:72646028 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1259G>A (p.Trp420Ter) single nucleotide variant Tay-Sachs disease [RCV000416427] Chr15:72346598 [GRCh38]
Chr15:72638939 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.426del (p.Phe142fs) deletion Tay-Sachs disease [RCV000416465] Chr15:72353724 [GRCh38]
Chr15:72646065 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1121A>C (p.Gln374Pro) single nucleotide variant Tay-Sachs disease [RCV000416466] Chr15:72347711 [GRCh38]
Chr15:72640052 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1349del (p.Ala450fs) deletion Tay-Sachs disease [RCV000416471] Chr15:72346307 [GRCh38]
Chr15:72638648 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.524A>C (p.Asp175Ala) single nucleotide variant Tay-Sachs disease [RCV000416473] Chr15:72353114 [GRCh38]
Chr15:72645455 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1432G>A (p.Gly478Arg) single nucleotide variant Tay-Sachs disease [RCV000416475] Chr15:72345540 [GRCh38]
Chr15:72637881 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1275_1278dup (p.Tyr427fs) duplication Tay-Sachs disease [RCV000477853] Chr15:72346578..72346579 [GRCh38]
Chr15:72638919..72638920 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.530C>G (p.Ser177Cys) single nucleotide variant Tay-Sachs disease [RCV000675092]|not provided [RCV000485524] Chr15:72353108 [GRCh38]
Chr15:72645449 [GRCh37]
Chr15:15q23
likely pathogenic|uncertain significance
NM_000520.6(HEXA):c.1490A>G (p.Tyr497Cys) single nucleotide variant Tay-Sachs disease [RCV000669111]|not provided [RCV000513686]|not specified [RCV000855657] Chr15:72345482 [GRCh38]
Chr15:72637823 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.10:g.(?_72345446)_(72346710_?)del deletion Tay-Sachs disease [RCV000461833] Chr15:72345446..72346710 [GRCh38]
Chr15:72637787..72639051 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.310T>G (p.Cys104Gly) single nucleotide variant not provided [RCV000478883] Chr15:72356561 [GRCh38]
Chr15:72648902 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000520.6(HEXA):c.8G>C (p.Ser3Thr) single nucleotide variant Intellectual disability [RCV001252516]|Tay-Sachs disease [RCV000505693]|not provided [RCV000757370]|not specified [RCV000781461] Chr15:72375965 [GRCh38]
Chr15:72668306 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.1074-86G>A single nucleotide variant Tay-Sachs disease [RCV000505694] Chr15:72347844 [GRCh38]
Chr15:72640185 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1074-100T>C single nucleotide variant Tay-Sachs disease [RCV000505696] Chr15:72347858 [GRCh38]
Chr15:72640199 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.253+5074C>T single nucleotide variant Tay-Sachs disease [RCV000505698] Chr15:72370646 [GRCh38]
Chr15:72662987 [GRCh37]
Chr15:15q23
likely benign
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3
pathogenic
NM_000520.6(HEXA):c.259C>T (p.Arg87Trp) single nucleotide variant Tay-Sachs disease [RCV000670754]|not specified [RCV000506335] Chr15:72356612 [GRCh38]
Chr15:72648953 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1146+18A>G single nucleotide variant Tay-Sachs disease [RCV000669027] Chr15:72347668 [GRCh38]
Chr15:72640009 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.139C>T (p.Gln47Ter) single nucleotide variant Tay-Sachs disease [RCV000669356] Chr15:72375834 [GRCh38]
Chr15:72668175 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1003A>T (p.Ile335Phe) single nucleotide variant Tay-Sachs disease [RCV000670252] Chr15:72348118 [GRCh38]
Chr15:72640459 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.20G>A (p.Trp7Ter) single nucleotide variant Tay-Sachs disease [RCV000670413] Chr15:72375953 [GRCh38]
Chr15:72668294 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.5(HEXA):c.1277_1278insTATC (p.Tyr427Ilefs) insertion Tay-Sachs disease [RCV000496044] Chr15:72346579..72346580 [GRCh38]
Chr15:72638920..72638921 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1074-7_1074-3del microsatellite Tay-Sachs disease [RCV000669592] Chr15:72347761..72347765 [GRCh38]
Chr15:72640102..72640106 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.581C>T (p.Ala194Val) single nucleotide variant Tay-Sachs disease [RCV000538820] Chr15:72351224 [GRCh38]
Chr15:72643565 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.460-1G>T single nucleotide variant Tay-Sachs disease [RCV000586741] Chr15:72353179 [GRCh38]
Chr15:72645520 [GRCh37]
Chr15:15q23
pathogenic
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3
pathogenic
NM_000520.6(HEXA):c.346+1G>A single nucleotide variant Tay-Sachs disease [RCV000672344] Chr15:72356524 [GRCh38]
Chr15:72648865 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.218_219insAAA (p.Phe73delinsLeuAsn) insertion Tay-Sachs disease [RCV000672353] Chr15:72375754..72375755 [GRCh38]
Chr15:72668095..72668096 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1549dup (p.Leu517fs) duplication Tay-Sachs disease [RCV000633126] Chr15:72344117..72344118 [GRCh38]
Chr15:72636458..72636459 [GRCh37]
Chr15:15q23
conflicting interpretations of pathogenicity|uncertain significance
NM_000520.6(HEXA):c.754C>T (p.Arg252Cys) single nucleotide variant Tay-Sachs disease [RCV000625807] Chr15:72350569 [GRCh38]
Chr15:72642910 [GRCh37]
Chr15:15q23
likely pathogenic|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.346+1G>T single nucleotide variant Tay-Sachs disease [RCV000672317] Chr15:72356524 [GRCh38]
Chr15:72648865 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter) single nucleotide variant Tay-Sachs disease [RCV000586108] Chr15:72375786 [GRCh38]
Chr15:72668127 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.598G>A (p.Val200Met) single nucleotide variant Tay-Sachs disease [RCV000664577] Chr15:72351207 [GRCh38]
Chr15:72643548 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1140del (p.Lys380_Val381insTer) deletion Tay-Sachs disease [RCV000673173] Chr15:72347692 [GRCh38]
Chr15:72640033 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.607T>G (p.Trp203Gly) single nucleotide variant Tay-Sachs disease [RCV000672016] Chr15:72351198 [GRCh38]
Chr15:72643539 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.446_448CTG[1] (p.Ala150del) microsatellite Tay-Sachs disease [RCV000673288] Chr15:72353699..72353701 [GRCh38]
Chr15:72646040..72646042 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.547_548CT[2] (p.Leu183_Ser184insTer) microsatellite Tay-Sachs disease [RCV000673289] Chr15:72353086..72353087 [GRCh38]
Chr15:72645427..72645428 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.749G>T (p.Gly250Val) single nucleotide variant Tay-Sachs disease [RCV000673319] Chr15:72350574 [GRCh38]
Chr15:72642915 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1022A>G (p.Lys341Arg) single nucleotide variant Tay-Sachs disease [RCV000670755] Chr15:72348099 [GRCh38]
Chr15:72640440 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1189C>T (p.Pro397Ser) single nucleotide variant Tay-Sachs disease [RCV000670783] Chr15:72346668 [GRCh38]
Chr15:72639009 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.101A>G (p.Asp34Gly) single nucleotide variant Tay-Sachs disease [RCV000670784] Chr15:72375872 [GRCh38]
Chr15:72668213 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1361G>A (p.Gly454Asp) single nucleotide variant Tay-Sachs disease [RCV000670986] Chr15:72346295 [GRCh38]
Chr15:72638636 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1499del (p.Leu500fs) deletion Tay-Sachs disease [RCV000758204] Chr15:72345473 [GRCh38]
Chr15:72637814 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.1578del (p.Phe526fs) deletion Tay-Sachs disease [RCV000664958] Chr15:72344089 [GRCh38]
Chr15:72636430 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1416G>C (p.Arg472Ser) single nucleotide variant Tay-Sachs disease [RCV000670765]|not specified [RCV000781462] Chr15:72346240 [GRCh38]
Chr15:72638581 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1375A>G (p.Met459Val) single nucleotide variant Tay-Sachs disease [RCV000670766] Chr15:72346281 [GRCh38]
Chr15:72638622 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn) single nucleotide variant Tay-Sachs disease [RCV000670916] Chr15:72346263 [GRCh38]
Chr15:72638604 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1169_1171delinsT (p.Gln390fs) indel Tay-Sachs disease [RCV000671720] Chr15:72346686..72346688 [GRCh38]
Chr15:72639027..72639029 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.545C>T (p.Pro182Leu) single nucleotide variant Tay-Sachs disease [RCV000670562] Chr15:72353093 [GRCh38]
Chr15:72645434 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1275A>G (p.Ile425Met) single nucleotide variant Tay-Sachs disease [RCV000670594] Chr15:72346582 [GRCh38]
Chr15:72638923 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.-7_1del (p.Met1fs) deletion Tay-Sachs disease [RCV000670129] Chr15:72375972..72375979 [GRCh38]
Chr15:72668313..72668320 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1204_1206del (p.Lys402del) deletion Tay-Sachs disease [RCV000670353] Chr15:72346651..72346653 [GRCh38]
Chr15:72638992..72638994 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.10T>C (p.Ser4Pro) single nucleotide variant Tay-Sachs disease [RCV000670378] Chr15:72375963 [GRCh38]
Chr15:72668304 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.253+5107G>A single nucleotide variant Tay-Sachs disease [RCV000670611] Chr15:72370613 [GRCh38]
Chr15:72662954 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1319T>C (p.Leu440Pro) single nucleotide variant Tay-Sachs disease [RCV000670750] Chr15:72346538 [GRCh38]
Chr15:72638879 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1103A>G (p.Lys368Arg) single nucleotide variant Tay-Sachs disease [RCV000670797] Chr15:72347729 [GRCh38]
Chr15:72640070 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1008G>C (p.Gln336His) single nucleotide variant Tay-Sachs disease [RCV000665394] Chr15:72348113 [GRCh38]
Chr15:72640454 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.927_928CT[1] (p.Ser310fs) microsatellite Tay-Sachs disease [RCV000681660] Chr15:72349135..72349136 [GRCh38]
Chr15:72641476..72641477 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr) single nucleotide variant Tay-Sachs disease [RCV000668656] Chr15:72350587 [GRCh38]
Chr15:72642928 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1168C>T (p.Gln390Ter) single nucleotide variant Tay-Sachs disease [RCV000666873]|not specified [RCV001002233] Chr15:72346689 [GRCh38]
Chr15:72639030 [GRCh37]
Chr15:15q23
pathogenic|likely pathogenic
NM_000520.6(HEXA):c.1421+13G>A single nucleotide variant Tay-Sachs disease [RCV000672627] Chr15:72346222 [GRCh38]
Chr15:72638563 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1421+1G>T single nucleotide variant Tay-Sachs disease [RCV000670361] Chr15:72346234 [GRCh38]
Chr15:72638575 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.388G>C (p.Glu130Gln) single nucleotide variant Tay-Sachs disease [RCV000670565] Chr15:72355583 [GRCh38]
Chr15:72647924 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1084A>G (p.Ile362Val) single nucleotide variant Tay-Sachs disease [RCV000670591] Chr15:72347748 [GRCh38]
Chr15:72640089 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1178G>A (p.Arg393Gln) single nucleotide variant Tay-Sachs disease [RCV000670578]|not specified [RCV001002010] Chr15:72346679 [GRCh38]
Chr15:72639020 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1087G>A (p.Val363Ile) single nucleotide variant Tay-Sachs disease [RCV000670763] Chr15:72347745 [GRCh38]
Chr15:72640086 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1421+13dup duplication Tay-Sachs disease [RCV000670851] Chr15:72346215..72346216 [GRCh38]
Chr15:72638556..72638557 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1073+51G>A single nucleotide variant Tay-Sachs disease [RCV000671276] Chr15:72347997 [GRCh38]
Chr15:72640338 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1214_1215delinsG (p.Glu405fs) indel Tay-Sachs disease [RCV000674074] Chr15:72346642..72346643 [GRCh38]
Chr15:72638983..72638984 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1237C>T (p.Arg413Trp) single nucleotide variant Tay-Sachs disease [RCV000670540] Chr15:72346620 [GRCh38]
Chr15:72638961 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1229C>T (p.Ala410Val) single nucleotide variant Tay-Sachs disease [RCV000670557] Chr15:72346628 [GRCh38]
Chr15:72638969 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.286G>A (p.Val96Ile) single nucleotide variant Tay-Sachs disease [RCV000670559] Chr15:72356585 [GRCh38]
Chr15:72648926 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1475A>G (p.Asp492Gly) single nucleotide variant Tay-Sachs disease [RCV000670579] Chr15:72345497 [GRCh38]
Chr15:72637838 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1421+15G>T single nucleotide variant Tay-Sachs disease [RCV000670828] Chr15:72346220 [GRCh38]
Chr15:72638561 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1073+41C>T single nucleotide variant Tay-Sachs disease [RCV000670880] Chr15:72348007 [GRCh38]
Chr15:72640348 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1146+8G>A single nucleotide variant Tay-Sachs disease [RCV000670881] Chr15:72347678 [GRCh38]
Chr15:72640019 [GRCh37]
Chr15:15q23
benign|likely benign
NM_000520.6(HEXA):c.941A>T (p.Asp314Val) single nucleotide variant Tay-Sachs disease [RCV000673962] Chr15:72349124 [GRCh38]
Chr15:72641465 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.237_253+7del deletion Tay-Sachs disease [RCV000667519] Chr15:72375713..72375736 [GRCh38]
Chr15:72668054..72668077 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1422-1G>T single nucleotide variant Tay-Sachs disease [RCV000671552] Chr15:72345551 [GRCh38]
Chr15:72637892 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1421+11del deletion Tay-Sachs disease [RCV000672623] Chr15:72346224 [GRCh38]
Chr15:72638565 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.91C>T (p.Gln31Ter) single nucleotide variant Tay-Sachs disease [RCV000665649] Chr15:72375882 [GRCh38]
Chr15:72668223 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.459+2dup duplication Tay-Sachs disease [RCV000674291] Chr15:72353688..72353689 [GRCh38]
Chr15:72646029..72646030 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1421+15G>C single nucleotide variant Tay-Sachs disease [RCV000667931] Chr15:72346220 [GRCh38]
Chr15:72638561 [GRCh37]
Chr15:15q23
likely benign|conflicting interpretations of pathogenicity
NM_000520.6(HEXA):c.977del (p.Phe326fs) deletion Tay-Sachs disease [RCV000671551] Chr15:72349088 [GRCh38]
Chr15:72641429 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1511G>T (p.Arg504Leu) single nucleotide variant Tay-Sachs disease [RCV000671879] Chr15:72345461 [GRCh38]
Chr15:72637802 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.72G>A (p.Trp24Ter) single nucleotide variant Tay-Sachs disease [RCV000673606] Chr15:72375901 [GRCh38]
Chr15:72668242 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1073+1G>T single nucleotide variant Tay-Sachs disease [RCV000665014] Chr15:72348047 [GRCh38]
Chr15:72640388 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1526+2T>C single nucleotide variant Tay-Sachs disease [RCV000674778] Chr15:72345444 [GRCh38]
Chr15:72637785 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn) single nucleotide variant Tay-Sachs disease [RCV000672419]|Tay-Sachs disease, variant AB [RCV001250237] Chr15:72375864 [GRCh38]
Chr15:72668205 [GRCh37]
Chr15:15q23
pathogenic|uncertain significance
NM_000520.6(HEXA):c.535C>T (p.His179Tyr) single nucleotide variant Tay-Sachs disease [RCV000666354] Chr15:72353103 [GRCh38]
Chr15:72645444 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.-1dup (p.Met1fs) duplication Tay-Sachs disease [RCV000668754] Chr15:72375972..72375973 [GRCh38]
Chr15:72668313..72668314 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.428G>T (p.Ser143Ile) single nucleotide variant Tay-Sachs disease [RCV000670592] Chr15:72353722 [GRCh38]
Chr15:72646063 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.346+2dup duplication Tay-Sachs disease [RCV000666179] Chr15:72356522..72356523 [GRCh38]
Chr15:72648863..72648864 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1502C>G (p.Ser501Ter) single nucleotide variant Tay-Sachs disease [RCV000666442] Chr15:72345470 [GRCh38]
Chr15:72637811 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1571del (p.Gln524fs) deletion Tay-Sachs disease [RCV000673381] Chr15:72344096 [GRCh38]
Chr15:72636437 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1214_1219del (p.403_404EL[1]) deletion Tay-Sachs disease [RCV000667486] Chr15:72346638..72346643 [GRCh38]
Chr15:72638979..72638984 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3 copy number gain not provided [RCV000683703] Chr15:71329220..102270758 [GRCh37]
Chr15:15q23-26.3
pathogenic
NM_000520.6(HEXA):c.1073C>T (p.Thr358Met) single nucleotide variant Tay-Sachs disease [RCV000706870] Chr15:72348048 [GRCh38]
Chr15:72640389 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.571-1G>T single nucleotide variant Tay-Sachs disease [RCV000689539] Chr15:72351235 [GRCh38]
Chr15:72643576 [GRCh37]
Chr15:15q23
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3
pathogenic
NM_000520.6(HEXA):c.1572G>A (p.Gln524=) single nucleotide variant not provided [RCV000862375] Chr15:72344095 [GRCh38]
Chr15:72636436 [GRCh37]
Chr15:15q23
likely benign
NC_000015.10:g.(?_72350508)_(72351244_?)del deletion Tay-Sachs disease [RCV001032229] Chr15:72642849..72643585 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.806G>A (p.Gly269Asp) single nucleotide variant Tay-Sachs disease [RCV001044397] Chr15:72349259 [GRCh38]
Chr15:72641600 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1230C>T (p.Ala410=) single nucleotide variant Tay-Sachs disease [RCV001275387]|not provided [RCV000864169] Chr15:72346627 [GRCh38]
Chr15:72638968 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.460-8C>T single nucleotide variant Tay-Sachs disease [RCV000866424] Chr15:72353186 [GRCh38]
Chr15:72645527 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1146+9G>C single nucleotide variant Tay-Sachs disease [RCV000869236] Chr15:72347677 [GRCh38]
Chr15:72640018 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.237C>T (p.Pro79=) single nucleotide variant not provided [RCV000866882] Chr15:72375736 [GRCh38]
Chr15:72668077 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.517C>T (p.Leu173=) single nucleotide variant Tay-Sachs disease [RCV001275903]|not provided [RCV000868066] Chr15:72353121 [GRCh38]
Chr15:72645462 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.276dup (p.Asn93fs) duplication Tay-Sachs disease [RCV001058419] Chr15:72356594..72356595 [GRCh38]
Chr15:72648935..72648936 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.422del (p.Thr141fs) deletion Tay-Sachs disease [RCV001071648] Chr15:72353728 [GRCh38]
Chr15:72646069 [GRCh37]
Chr15:15q23
pathogenic
GRCh37/hg19 15q23(chr15:72662932-72670877) copy number loss Tay-Sachs disease [RCV001030746] Chr15:72662932..72670877 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.640G>A (p.Glu214Lys) single nucleotide variant not specified [RCV000781463] Chr15:72351165 [GRCh38]
Chr15:72643506 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.4:c.1177C>T single nucleotide variant Tay-Sachs disease [RCV000814985]   pathogenic
NM_000520.6(HEXA):c.981C>T (p.Thr327=) single nucleotide variant not provided [RCV000974714] Chr15:72349084 [GRCh38]
Chr15:72641425 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.906C>T (p.Ser302=) single nucleotide variant Tay-Sachs disease [RCV001276071]|not provided [RCV000867460] Chr15:72349159 [GRCh38]
Chr15:72641500 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.6(HEXA):c.413-10A>G single nucleotide variant Tay-Sachs disease [RCV000979126] Chr15:72353747 [GRCh38]
Chr15:72646088 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1317C>T (p.Pro439=) single nucleotide variant not provided [RCV000869127] Chr15:72346540 [GRCh38]
Chr15:72638881 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.795C>T (p.Ser265=) single nucleotide variant not provided [RCV000975758] Chr15:72350528 [GRCh38]
Chr15:72642869 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1443C>T (p.Ala481=) single nucleotide variant not provided [RCV000864798] Chr15:72345529 [GRCh38]
Chr15:72637870 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1477C>T (p.Leu493=) single nucleotide variant not provided [RCV000875797] Chr15:72345495 [GRCh38]
Chr15:72637836 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1257C>T (p.Pro419=) single nucleotide variant not provided [RCV000978723] Chr15:72346600 [GRCh38]
Chr15:72638941 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.957T>C (p.Leu319=) single nucleotide variant not provided [RCV000981984] Chr15:72349108 [GRCh38]
Chr15:72641449 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.381C>A (p.Leu127=) single nucleotide variant not provided [RCV000982096] Chr15:72355590 [GRCh38]
Chr15:72647931 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1338T>C (p.Pro446=) single nucleotide variant Tay-Sachs disease [RCV001275386]|not provided [RCV000861961] Chr15:72346318 [GRCh38]
Chr15:72638659 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.597C>T (p.Asn199=) single nucleotide variant not provided [RCV000870722] Chr15:72351208 [GRCh38]
Chr15:72643549 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.528A>C (p.Thr176=) single nucleotide variant not provided [RCV000875737] Chr15:72353110 [GRCh38]
Chr15:72645451 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.13A>C (p.Arg5=) single nucleotide variant not provided [RCV000866864] Chr15:72375960 [GRCh38]
Chr15:72668301 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.430C>T (p.Gln144Ter) single nucleotide variant Tay-Sachs disease [RCV000820139] Chr15:72353720 [GRCh38]
Chr15:72646061 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1526+79A>G single nucleotide variant not provided [RCV000833239] Chr15:72345367 [GRCh38]
Chr15:72637708 [GRCh37]
Chr15:15q23
benign
NM_000520.4:c.134A>C single nucleotide variant Tay-Sachs disease [RCV000813432]   uncertain significance
NM_000520.4:c.902T>G single nucleotide variant Tay-Sachs disease [RCV000816974]   uncertain significance
NM_000520.6(HEXA):c.736G>T (p.Ala246Ser) single nucleotide variant not provided [RCV000985759] Chr15:72350587 [GRCh38]
Chr15:72642928 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.667A>G (p.Arg223Gly) single nucleotide variant Tay-Sachs disease [RCV000808475] Chr15:72351138 [GRCh38]
Chr15:72643479 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.4:c.1168C>T single nucleotide variant Tay-Sachs disease [RCV000799573]   pathogenic
NM_000520.6(HEXA):c.1422-237A>G single nucleotide variant not provided [RCV000844283] Chr15:72345787 [GRCh38]
Chr15:72638128 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.345T>G (p.Asn115Lys) single nucleotide variant Tay-Sachs disease [RCV000807705] Chr15:72356526 [GRCh38]
Chr15:72648867 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1476C>G (p.Asp492Glu) single nucleotide variant Tay-Sachs disease [RCV000812893] Chr15:72345496 [GRCh38]
Chr15:72637837 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.587A>G (p.Asn196Ser) single nucleotide variant Tay-Sachs disease [RCV000819747] Chr15:72351218 [GRCh38]
Chr15:72643559 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.9:g.(?_72640007)_(72643595_?)dup duplication Tay-Sachs disease [RCV000802582] Chr15:72347666..72351254 [GRCh38]
Chr15:72640007..72643595 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.181C>T (p.Leu61Phe) single nucleotide variant Tay-Sachs disease [RCV000806667] Chr15:72375792 [GRCh38]
Chr15:72668133 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.4:c.1511G>A single nucleotide variant Tay-Sachs disease [RCV000810036]   pathogenic
NM_000520.6(HEXA):c.672G>T (p.Lys224Asn) single nucleotide variant Tay-Sachs disease [RCV000810754] Chr15:72351133 [GRCh38]
Chr15:72643474 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.4:c.915_917delCTT variation Tay-Sachs disease [RCV000794043]   pathogenic
NM_000520.4:c.772G>C single nucleotide variant Tay-Sachs disease [RCV000801596]   pathogenic
NM_000520.4:c.745C>T single nucleotide variant Tay-Sachs disease [RCV000794143]   other
NM_000520.6(HEXA):c.102C>T (p.Asp34=) single nucleotide variant Tay-Sachs disease [RCV001276074]|not provided [RCV000861244] Chr15:72375871 [GRCh38]
Chr15:72668212 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.4:c.1453T>C single nucleotide variant Tay-Sachs disease [RCV000798048]   uncertain significance
NM_000520.6(HEXA):c.3G>A (p.Met1Ile) single nucleotide variant Tay-Sachs disease [RCV000798879] Chr15:72375970 [GRCh38]
Chr15:72668311 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1028G>T (p.Gly343Val) single nucleotide variant Tay-Sachs disease [RCV000804707]|not provided [RCV001284498] Chr15:72348093 [GRCh38]
Chr15:72640434 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.4:c.964G>A single nucleotide variant Tay-Sachs disease [RCV000805259]   uncertain significance
NM_000520.6(HEXA):c.1254C>T (p.Ala418=) single nucleotide variant not provided [RCV000876480] Chr15:72346603 [GRCh38]
Chr15:72638944 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1548C>T (p.Pro516=) single nucleotide variant not provided [RCV000869601] Chr15:72344119 [GRCh38]
Chr15:72636460 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1183del (p.Asp395fs) deletion Tay-Sachs disease [RCV001174718] Chr15:72346674 [GRCh38]
Chr15:72639015 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser) single nucleotide variant Tay-Sachs disease [RCV000989356] Chr15:72353099 [GRCh38]
Chr15:72645440 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.413-2A>G single nucleotide variant Tay-Sachs disease [RCV001193756] Chr15:72353739 [GRCh38]
Chr15:72646080 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1549C>G (p.Leu517Val) single nucleotide variant not provided [RCV000995384] Chr15:72344118 [GRCh38]
Chr15:72636459 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.698T>C (p.Ile233Thr) single nucleotide variant not provided [RCV000995385] Chr15:72350625 [GRCh38]
Chr15:72642966 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.397del (p.Trp133fs) deletion Tay-Sachs disease [RCV001216462] Chr15:72355574 [GRCh38]
Chr15:72647915 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1421+7del deletion Tay-Sachs disease [RCV001207494] Chr15:72346228 [GRCh38]
Chr15:72638569 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.582G>A (p.Ala194=) single nucleotide variant Tay-Sachs disease [RCV001276073]|none provided [RCV001285419]|not provided [RCV000864479] Chr15:72351223 [GRCh38]
Chr15:72643564 [GRCh37]
Chr15:15q23
likely benign|uncertain significance
NM_000520.6(HEXA):c.69C>G (p.Leu23=) single nucleotide variant Tay-Sachs disease [RCV001272685]|not provided [RCV000860645] Chr15:72375904 [GRCh38]
Chr15:72668245 [GRCh37]
Chr15:15q23
benign|uncertain significance
NM_000520.6(HEXA):c.309A>T (p.Gly103=) single nucleotide variant not provided [RCV000976882] Chr15:72356562 [GRCh38]
Chr15:72648903 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1545A>G (p.Gln515=) single nucleotide variant not provided [RCV000872196] Chr15:72344122 [GRCh38]
Chr15:72636463 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.1305_1306inv (p.Ile436Val) inversion not provided [RCV000864058] Chr15:72346551..72346552 [GRCh38]
Chr15:72638892..72638893 [GRCh37]
Chr15:15q23
likely benign
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer) deletion Tay-Sachs disease [RCV001193757] Chr15:72351189 [GRCh38]
Chr15:72643530 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.346+5G>A single nucleotide variant Tay-Sachs disease [RCV001230440] Chr15:72356520 [GRCh38]
Chr15:72648861 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1217_1220delinsA (p.Leu406_Val407delinsHis) indel Tay-Sachs disease [RCV001240277] Chr15:72346637..72346640 [GRCh38]
Chr15:72638978..72638981 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1264C>G (p.Leu422Val) single nucleotide variant Tay-Sachs disease [RCV001044039] Chr15:72346593 [GRCh38]
Chr15:72638934 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.310_313dup (p.Asn105delinsMetTer) duplication Tay-Sachs disease [RCV001044511] Chr15:72356557..72356558 [GRCh38]
Chr15:72648898..72648899 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1164C>G (p.Ile388Met) single nucleotide variant Tay-Sachs disease [RCV001243987] Chr15:72346693 [GRCh38]
Chr15:72639034 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.347A>G (p.Tyr116Cys) single nucleotide variant Tay-Sachs disease [RCV001175332] Chr15:72355624 [GRCh38]
Chr15:72647965 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1444G>T (p.Glu482Ter) single nucleotide variant Tay-Sachs disease [RCV001175333] Chr15:72345528 [GRCh38]
Chr15:72637869 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.460-19C>T single nucleotide variant Tay-Sachs disease [RCV001198815] Chr15:72353197 [GRCh38]
Chr15:72645538 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1137_1141TAAAG[1] (p.Val381fs) microsatellite not provided [RCV001008201] Chr15:72347686..72347690 [GRCh38]
Chr15:72640027..72640031 [GRCh37]
Chr15:15q23
likely pathogenic
NC_000015.10:g.(?_72353681)_(73368280_?)dup duplication Brugada syndrome 8 [RCV001031726] Chr15:72646022..73660621 [GRCh37]
Chr15:15q23-24.1
uncertain significance
NM_000520.6(HEXA):c.254-2A>G single nucleotide variant Tay-Sachs disease [RCV001213868] Chr15:72356619 [GRCh38]
Chr15:72648960 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1419_1420del (p.Trp474fs) microsatellite Tay-Sachs disease [RCV001235741] Chr15:72346236..72346237 [GRCh38]
Chr15:72638577..72638578 [GRCh37]
Chr15:15q23
pathogenic
NC_000015.10:g.(?_72375710)_(72376483_?)del deletion Tay-Sachs disease [RCV001032785] Chr15:72668051..72668824 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.836C>G (p.Ser279Cys) single nucleotide variant Tay-Sachs disease [RCV001276072]|not specified [RCV001002023] Chr15:72349229 [GRCh38]
Chr15:72641570 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.32T>C (p.Leu11Pro) single nucleotide variant not specified [RCV001002232] Chr15:72375941 [GRCh38]
Chr15:72668282 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.410G>A (p.Arg137Gln) single nucleotide variant Tay-Sachs disease [RCV001058260]|not provided [RCV001092609] Chr15:72355561 [GRCh38]
Chr15:72647902 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.631_634del (p.Phe211fs) microsatellite Tay-Sachs disease [RCV001204941] Chr15:72351171..72351174 [GRCh38]
Chr15:72643512..72643515 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.1087_1088delinsTA (p.Val363Tyr) indel Tay-Sachs disease [RCV001248220] Chr15:72347744..72347745 [GRCh38]
Chr15:72640085..72640086 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.478G>A (p.Glu160Lys) single nucleotide variant Tay-Sachs disease [RCV001041214] Chr15:72353160 [GRCh38]
Chr15:72645501 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.106C>T (p.Arg36Cys) single nucleotide variant Tay-Sachs disease [RCV001039808] Chr15:72375867 [GRCh38]
Chr15:72668208 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1039G>T (p.Asp347Tyr) single nucleotide variant Tay-Sachs disease [RCV001213325] Chr15:72348082 [GRCh38]
Chr15:72640423 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1529G>A (p.Arg510Gln) single nucleotide variant Tay-Sachs disease [RCV001055451] Chr15:72344138 [GRCh38]
Chr15:72636479 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.373T>G (p.Cys125Gly) single nucleotide variant Tay-Sachs disease [RCV001051877] Chr15:72355598 [GRCh38]
Chr15:72647939 [GRCh37]
Chr15:15q23
uncertain significance
NC_000015.10:g.(?_72374460)_(72375992_?)del deletion Tay-Sachs disease [RCV001033582] Chr15:72666801..72668333 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.542T>C (p.Leu181Pro) single nucleotide variant Tay-Sachs disease [RCV001203426] Chr15:72353096 [GRCh38]
Chr15:72645437 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1400C>T (p.Thr467Ile) single nucleotide variant Tay-Sachs disease [RCV001204504] Chr15:72346256 [GRCh38]
Chr15:72638597 [GRCh37]
Chr15:15q23
uncertain significance
GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1 copy number loss not provided [RCV001259707] Chr15:70268937..74098081 [GRCh37]
Chr15:15q23-24.1
likely pathogenic
NM_000520.6(HEXA):c.568_569del (p.Leu190fs) microsatellite Tay-Sachs disease [RCV001260246] Chr15:72353069..72353070 [GRCh38]
Chr15:72645410..72645411 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6:c.572_1146del deletion Tay-Sachs disease [RCV001264797]   likely pathogenic
NM_000520.6(HEXA):c.1123G>T (p.Glu375Ter) single nucleotide variant Tay-Sachs disease [RCV001263877] Chr15:72347709 [GRCh38]
Chr15:72640050 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1120C>T (p.Gln374Ter) single nucleotide variant Tay-Sachs disease [RCV001263878] Chr15:72347712 [GRCh38]
Chr15:72640053 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1119G>A (p.Trp373Ter) single nucleotide variant Tay-Sachs disease [RCV001263879] Chr15:72347713 [GRCh38]
Chr15:72640054 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1118G>A (p.Trp373Ter) single nucleotide variant Tay-Sachs disease [RCV001263880] Chr15:72347714 [GRCh38]
Chr15:72640055 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1098T>A (p.Tyr366Ter) single nucleotide variant Tay-Sachs disease [RCV001263881] Chr15:72347734 [GRCh38]
Chr15:72640075 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1024A>T (p.Lys342Ter) single nucleotide variant Tay-Sachs disease [RCV001264041] Chr15:72348097 [GRCh38]
Chr15:72640438 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.958G>T (p.Gly320Ter) single nucleotide variant Tay-Sachs disease [RCV001264042] Chr15:72349107 [GRCh38]
Chr15:72641448 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.451G>T (p.Glu151Ter) single nucleotide variant Tay-Sachs disease [RCV001264043] Chr15:72353699 [GRCh38]
Chr15:72646040 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.370C>T (p.Gln124Ter) single nucleotide variant Tay-Sachs disease [RCV001264044] Chr15:72355601 [GRCh38]
Chr15:72647942 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.284T>A (p.Leu95Ter) single nucleotide variant Tay-Sachs disease [RCV001264045] Chr15:72356587 [GRCh38]
Chr15:72648928 [GRCh37]
Chr15:15q23
likely pathogenic
NM_000520.6(HEXA):c.1147-1G>T single nucleotide variant Tay-Sachs disease [RCV001261543]   pathogenic
NM_000520.6(HEXA):c.496del (p.Arg166fs) deletion Tay-Sachs disease [RCV001264519] Chr15:72353142 [GRCh38]
Chr15:72645483 [GRCh37]
Chr15:15q23
pathogenic
NM_000520.6(HEXA):c.962G>A (p.Gly321Glu) single nucleotide variant not specified [RCV001280549] Chr15:72349103 [GRCh38]
Chr15:72641444 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.499T>G (p.Phe167Val) single nucleotide variant not specified [RCV001280548] Chr15:72353139 [GRCh38]
Chr15:72645480 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.1556T>A (p.Val519Glu) single nucleotide variant Tay-Sachs disease [RCV001277742] Chr15:72344111 [GRCh38]
Chr15:72636452 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.789T>C (p.Thr263=) single nucleotide variant Tay-Sachs disease [RCV001277743] Chr15:72350534 [GRCh38]
Chr15:72642875 [GRCh37]
Chr15:15q23
uncertain significance
NM_000520.6(HEXA):c.254-33G>A single nucleotide variant Tay-Sachs disease [RCV001277744] Chr15:72356650 [GRCh38]
Chr15:72648991 [GRCh37]
Chr15:15q23
benign
NM_000520.6(HEXA):c.93A>T (p.Gln31His) single nucleotide variant Tay-Sachs disease [RCV001277745] Chr15:72375880 [GRCh38]
Chr15:72668221 [GRCh37]
Chr15:15q23
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4878 AgrOrtholog
COSMIC HEXA COSMIC
Ensembl Genes ENSG00000213614 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000268097 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000455114 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000455545 UniProtKB/TrEMBL
  ENSP00000456346 UniProtKB/TrEMBL
  ENSP00000456489 UniProtKB/TrEMBL
  ENSP00000457037 UniProtKB/TrEMBL
  ENSP00000457125 UniProtKB/TrEMBL
  ENSP00000457521 UniProtKB/TrEMBL
  ENSP00000458128 UniProtKB/TrEMBL
  ENSP00000478217 UniProtKB/TrEMBL
Ensembl Transcript ENST00000268097 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000563762 UniProtKB/TrEMBL
  ENST00000566304 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000566672 UniProtKB/TrEMBL
  ENST00000567027 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000567159 UniProtKB/TrEMBL
  ENST00000567213 UniProtKB/TrEMBL
  ENST00000567411 UniProtKB/TrEMBL
  ENST00000568260 UniProtKB/TrEMBL
  ENST00000569410 UniProtKB/TrEMBL
Gene3D-CATH 3.30.379.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000213614 GTEx
HGNC ID HGNC:4878 ENTREZGENE
Human Proteome Map HEXA Human Proteome Map
InterPro Beta_hexosaminidase_sua/sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_hydro_20_cat UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycoside_hydrolase_SF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Hex-like_dom2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  HEX_eukaryotic_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3073 ENTREZGENE
OMIM 272800 OMIM
  606869 OMIM
Pfam Glyco_hydro_20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycohydro_20b2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29256 PharmGKB
PIRSF B-hxosamndse_ab_euk UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
PRINTS GLHYDRLASE20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF51445 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55545 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WTY2_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3L7_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3M0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3U8_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3W3 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z3X0_HUMAN UniProtKB/TrEMBL
  B4DVA7 ENTREZGENE, UniProtKB/TrEMBL
  G3XL48_HUMAN UniProtKB/TrEMBL
  G3XL49_HUMAN UniProtKB/TrEMBL
  G3XL78_HUMAN UniProtKB/TrEMBL
  G3XL79_HUMAN UniProtKB/TrEMBL
  G3XL80_HUMAN UniProtKB/TrEMBL
  G3XL81_HUMAN UniProtKB/TrEMBL
  G3XL82_HUMAN UniProtKB/TrEMBL
  G3XL83_HUMAN UniProtKB/TrEMBL
  G8FGB2_HUMAN UniProtKB/TrEMBL
  H3BP20 ENTREZGENE, UniProtKB/TrEMBL
  H3BQ04_HUMAN UniProtKB/TrEMBL
  H3BRP6_HUMAN UniProtKB/TrEMBL
  H3BS10_HUMAN UniProtKB/TrEMBL
  H3BT62_HUMAN UniProtKB/TrEMBL
  H3BTD4_HUMAN UniProtKB/TrEMBL
  H3BU85_HUMAN UniProtKB/TrEMBL
  H3BVH8_HUMAN UniProtKB/TrEMBL
  HEXA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16017_HUMAN UniProtKB/TrEMBL
  Q9BVJ8_HUMAN UniProtKB/TrEMBL
  V9H096_HUMAN UniProtKB/TrEMBL
  V9H0A6_HUMAN UniProtKB/TrEMBL
  V9H0E1_HUMAN UniProtKB/TrEMBL
UniProt Secondary B4DKE7 UniProtKB/Swiss-Prot
  E7ENH7 UniProtKB/Swiss-Prot
  Q53HS8 UniProtKB/Swiss-Prot
  Q6AI32 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 HEXA  hexosaminidase subunit alpha    hexosaminidase A (alpha polypeptide)  Symbol and/or name change 5135510 APPROVED
2011-08-16 HEXA  hexosaminidase A (alpha polypeptide)  HEXA  hexosaminidase A (alpha polypeptide)  Symbol and/or name change 5135510 APPROVED