HEXB (hexosaminidase subunit beta) - Rat Genome Database
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Gene: HEXB (hexosaminidase subunit beta) Homo sapiens
Analyze
Symbol: HEXB
Name: hexosaminidase subunit beta
RGD ID: 1316898
HGNC Page HGNC
Description: Exhibits acetylglucosaminyltransferase activity; beta-N-acetylhexosaminidase activity; and identical protein binding activity. Involved in ganglioside catabolic process. Localizes to azurophil granule. Implicated in Sandhoff disease and spinal muscular atrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: beta-hexosaminidase beta-subunit; beta-hexosaminidase subunit beta; beta-N-acetylhexosaminidase subunit beta; cervical cancer proto-oncogene 7 protein; ENC-1AS; epididymis luminal protein 248; epididymis secretory protein Li 111; HCC-7; HEL-248; HEL-S-111; hexosaminidase B (beta polypeptide); hexosaminidase subunit B; N-acetyl-beta-glucosaminidase subunit beta
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 Ensembl574,640,023 - 74,722,647 (+)EnsemblGRCh38hg38GRCh38
GRCh38574,640,023 - 74,721,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37573,935,848 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37573,935,547 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,016,767 - 74,052,869 (+)NCBINCBI36hg18NCBI36
Build 34574,016,766 - 74,052,869NCBI
Celera569,875,759 - 69,911,869 (+)NCBI
Cytogenetic Map5q13.3NCBI
HuRef569,185,979 - 69,222,054 (+)NCBIHuRef
CHM1_1573,368,412 - 73,449,974 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
2-Methylaziridine  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (EXP)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrolein  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
ampicillin  (ISO)
Aroclor 1254  (ISO)
astemizole  (ISO)
atracurium  (EXP)
atrazine  (EXP)
azithromycin  (ISO)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
biphenyl-2-ol  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
bitertanol  (ISO)
Brodifacoum  (ISO)
buspirone  (ISO)
butylated hydroxyanisole  (ISO)
Butylparaben  (ISO)
cadmium atom  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
cetirizine  (ISO)
choline  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibric acid  (ISO)
cupressuflavone  (ISO)
cyclosporin A  (EXP,ISO)
dexamethasone  (EXP)
dicrotophos  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
entinostat  (EXP)
ethanol  (ISO)
finasteride  (ISO)
flunarizine  (ISO)
flutamide  (ISO)
folic acid  (ISO)
furan  (ISO)
gamma-linolenic acid  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
hydroxyzine  (ISO)
indometacin  (EXP)
ionomycin  (EXP,ISO)
KN-93  (ISO)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (ISO)
metronidazole  (ISO)
Mibefradil  (ISO)
ML-7  (ISO)
N-(4-aminobutyl)-5-chloronaphthalene-2-sulfonamide  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
neomycin  (ISO)
nickel dichloride  (ISO)
Oxatomide  (ISO)
oxycodone  (ISO)
ozone  (EXP)
paracetamol  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
prothiofos  (ISO)
pyridaben  (ISO)
pyrimethamine  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
Salinomycin  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sunitinib  (EXP)
terbufos  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
titanium dioxide  (ISO)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vecuronium bromide  (EXP)
Yessotoxin  (EXP)
zinc dichloride  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:1054503   PMID:1386607   PMID:1487253   PMID:1531140   PMID:1825792   PMID:1967020   PMID:2139028   PMID:2147427   PMID:2170400   PMID:2522450   PMID:2525487   PMID:2579389  
PMID:2921040   PMID:2948136   PMID:2964638   PMID:2965147   PMID:2966076   PMID:2971039   PMID:2971395   PMID:2977375   PMID:3013851   PMID:6230359   PMID:6959123   PMID:7177110  
PMID:7299841   PMID:7557963   PMID:7626071   PMID:7633435   PMID:8045559   PMID:8106452   PMID:8123671   PMID:8357844   PMID:8634145   PMID:8663217   PMID:8672428   PMID:8673609  
PMID:8950198   PMID:9401004   PMID:9694901   PMID:9856491   PMID:9888387   PMID:10571007   PMID:10591618   PMID:10982028   PMID:11447134   PMID:12413610   PMID:12477932   PMID:12662933  
PMID:12706724   PMID:12754519   PMID:14702039   PMID:15459180   PMID:15485660   PMID:15489334   PMID:15953731   PMID:16352452   PMID:16698036   PMID:16710745   PMID:17251047   PMID:18180457  
PMID:18204279   PMID:18217416   PMID:18552385   PMID:18588514   PMID:18758829   PMID:18930675   PMID:19278737   PMID:19615986   PMID:19913121   PMID:19946888   PMID:20628086   PMID:20800603  
PMID:21307379   PMID:21321400   PMID:21637923   PMID:21900206   PMID:21978926   PMID:21997228   PMID:22191674   PMID:22268729   PMID:22789865   PMID:22848519   PMID:22863301   PMID:22863883  
PMID:23046579   PMID:23349634   PMID:23370522   PMID:23376485   PMID:23533145   PMID:23886397   PMID:23906468   PMID:23911049   PMID:24461908   PMID:24518553   PMID:25645918   PMID:25659154  
PMID:26344197   PMID:26496610   PMID:26582265   PMID:27018595   PMID:27105913   PMID:27682710   PMID:28514442   PMID:28846871   PMID:29128334   PMID:29448188   PMID:30397336   PMID:31682993  
PMID:31852446   PMID:31919734   PMID:32296183   PMID:32814053  


Genomics

Comparative Map Data
HEXB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl574,640,023 - 74,722,647 (+)EnsemblGRCh38hg38GRCh38
GRCh38574,640,023 - 74,721,288 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37573,935,848 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
GRCh37573,935,547 - 74,017,113 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36574,016,767 - 74,052,869 (+)NCBINCBI36hg18NCBI36
Build 34574,016,766 - 74,052,869NCBI
Celera569,875,759 - 69,911,869 (+)NCBI
Cytogenetic Map5q13.3NCBI
HuRef569,185,979 - 69,222,054 (+)NCBIHuRef
CHM1_1573,368,412 - 73,449,974 (+)NCBICHM1_1
Hexb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391397,312,839 - 97,334,865 (-)NCBIGRCm39mm39
GRCm381397,176,331 - 97,198,357 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1397,176,331 - 97,198,357 (-)EnsemblGRCm38mm10GRCm38
MGSCv371397,946,286 - 97,968,312 (-)NCBIGRCm37mm9NCBIm37
MGSCv361398,277,106 - 98,298,969 (-)NCBImm8
Celera13100,809,364 - 100,830,755 (-)NCBICelera
Cytogenetic Map13D1NCBI
cM Map1350.66NCBI
Hexb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2228,483,997 - 28,504,165 (-)NCBI
Rnor_6.0 Ensembl227,984,117 - 28,003,186 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0227,983,925 - 28,003,260 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0247,094,814 - 47,114,992 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4227,649,188 - 27,672,231 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1227,569,557 - 27,592,600 (-)NCBI
Celera224,525,921 - 24,545,955 (-)NCBICelera
Cytogenetic Map2q12NCBI
Hexb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542525,942,278 - 25,961,312 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495542525,942,341 - 25,961,312 (-)NCBIChiLan1.0ChiLan1.0
HEXB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1541,199,681 - 41,232,693 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl541,199,681 - 41,232,693 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0540,589,448 - 40,625,176 (-)NCBIMhudiblu_PPA_v0panPan3
HEXB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl257,222,186 - 57,248,417 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1257,221,809 - 57,248,432 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Hexb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365491,918,482 - 1,943,665 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HEXB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl283,744,627 - 83,784,759 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1283,745,263 - 83,784,762 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2285,331,866 - 85,371,568 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HEXB
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1469,037,532 - 69,065,925 (+)NCBI
ChlSab1.1 Ensembl469,037,583 - 69,065,814 (+)Ensembl
Hexb
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624924195,406 - 219,232 (-)NCBI

Position Markers
SHGC-32009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,017,101 - 74,017,225UniSTSGRCh37
Build 36574,052,857 - 74,052,981RGDNCBI36
Celera569,911,857 - 69,911,981RGD
Cytogenetic Map5q13UniSTS
HuRef569,222,042 - 69,222,166UniSTS
GeneMap99-GB4 RH Map5366.46UniSTS
Whitehead-RH Map5267.5UniSTS
NCBI RH Map5336.5UniSTS
GeneMap99-G3 RH Map52690.0UniSTS
RH92711  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,001,907 - 74,001,987UniSTSGRCh37
Build 36574,037,663 - 74,037,743RGDNCBI36
Celera570,088,069 - 70,088,149UniSTS
Celera569,896,669 - 69,896,749RGD
HuRef569,206,852 - 69,206,932UniSTS
D5S1611E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,017,146 - 74,017,339UniSTSGRCh37
Build 36574,052,902 - 74,053,095RGDNCBI36
Celera569,911,902 - 69,912,095RGD
Cytogenetic Map5q13UniSTS
HuRef569,222,087 - 69,222,280UniSTS
STS-R97079  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,016,940 - 74,017,062UniSTSGRCh37
Build 36574,052,696 - 74,052,818RGDNCBI36
Celera569,911,696 - 69,911,818RGD
Cytogenetic Map5q13UniSTS
HuRef569,221,881 - 69,222,003UniSTS
GeneMap99-GB4 RH Map5365.93UniSTS
NCBI RH Map5336.5UniSTS
GDB:615686  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q13UniSTS
SGC32640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37574,014,148 - 74,014,709UniSTSGRCh37
Celera569,908,904 - 69,909,465UniSTS
Cytogenetic Map5q13UniSTS
HuRef569,219,089 - 69,219,650UniSTS
GeneMap99-GB4 RH Map5366.14UniSTS
Whitehead-RH Map5266.2UniSTS
NCBI RH Map5337.4UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1139
Count of miRNA genes:604
Interacting mature miRNAs:646
Transcripts:ENST00000261416, ENST00000503312, ENST00000504459, ENST00000505859, ENST00000509579, ENST00000510820, ENST00000511181, ENST00000511621, ENST00000513079, ENST00000513336, ENST00000513539, ENST00000513867, ENST00000515528
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 2432 2854 1701 604 1875 446 4240 1996 2999 412 1390 1605 171 1204 2673 5
Low 7 137 25 20 72 19 116 201 734 7 70 8 4 1 115 1 2
Below cutoff 3

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000521 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001292004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC026405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC093214 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF378118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002718 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122992 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY643499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC017378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE907813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT009919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10518 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ224336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ891410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KC877004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M13519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M19735 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M34906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261416   ⟹   ENSP00000261416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,685,233 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000503312   ⟹   ENSP00000426384
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,716,629 - 74,722,616 (+)Ensembl
RefSeq Acc Id: ENST00000504459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,713,538 - 74,720,836 (+)Ensembl
RefSeq Acc Id: ENST00000505859   ⟹   ENSP00000424550
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,720,488 - 74,722,647 (+)Ensembl
RefSeq Acc Id: ENST00000509579   ⟹   ENSP00000424939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,719,989 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000510820
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,693,475 - 74,705,257 (+)Ensembl
RefSeq Acc Id: ENST00000511181   ⟹   ENSP00000426285
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,640,023 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000511621
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,715,646 - 74,716,829 (+)Ensembl
RefSeq Acc Id: ENST00000513079
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,685,196 - 74,706,168 (+)Ensembl
RefSeq Acc Id: ENST00000513336   ⟹   ENSP00000423713
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,715,586 - 74,721,288 (+)Ensembl
RefSeq Acc Id: ENST00000513539
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,718,291 - 74,721,287 (+)Ensembl
RefSeq Acc Id: ENST00000513867
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,721,057 - 74,722,629 (+)Ensembl
RefSeq Acc Id: ENST00000515528
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl574,685,206 - 74,689,849 (+)Ensembl
RefSeq Acc Id: NM_000521   ⟹   NP_000512
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,685,233 - 74,721,288 (+)NCBI
GRCh37573,935,547 - 74,017,113 (+)NCBI
Build 36574,016,767 - 74,052,869 (+)NCBI Archive
HuRef569,185,979 - 69,222,054 (+)ENTREZGENE
CHM1_1573,413,670 - 73,449,974 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001292004   ⟹   NP_001278933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,640,023 - 74,721,288 (+)NCBI
CHM1_1573,368,412 - 73,449,974 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_000512   ⟸   NM_000521
- Peptide Label: isoform 1 preproprotein
- Sequence:
RefSeq Acc Id: NP_001278933   ⟸   NM_001292004
- Peptide Label: isoform 2
- UniProtKB: P07686 (UniProtKB/Swiss-Prot),   Q5URX0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000426384   ⟸   ENST00000503312
RefSeq Acc Id: ENSP00000424550   ⟸   ENST00000505859
RefSeq Acc Id: ENSP00000424939   ⟸   ENST00000509579
RefSeq Acc Id: ENSP00000426285   ⟸   ENST00000511181
RefSeq Acc Id: ENSP00000261416   ⟸   ENST00000261416
RefSeq Acc Id: ENSP00000423713   ⟸   ENST00000513336
Protein Domains
Glyco_hydro_20   Glycohydro_20b2

Promoters
RGD ID:6803245
Promoter ID:HG_KWN:50469
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,   NB4
Transcripts:NM_000521,   UC003KDE.2,   UC010IZH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36574,016,609 - 74,017,109 (+)MPROMDB
RGD ID:6853110
Promoter ID:EP74376
Type:initiation region
Name:HS_HEXB
Description:Hexosaminidase B (beta 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 36574,016,831 - 74,016,891EPD
RGD ID:6869876
Promoter ID:EPDNEW_H8103
Type:initiation region
Name:HEXB_1
Description:hexosaminidase subunit beta
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38574,685,233 - 74,685,293EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
nsv513799 deletion Sandhoff disease [RCV000004077] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.362A>G (p.Lys121Arg) single nucleotide variant HEXB POLYMORPHISM [RCV000004078]|Sandhoff disease [RCV000336190]|not provided [RCV000675618]|not specified [RCV000079063] Chr5:74689390 [GRCh38]
Chr5:73985215 [GRCh37]
Chr5:5q13.3
benign|likely benign
HEXB, 24-BP INS insertion Sandhoff disease, juvenile type [RCV000004079] Chr5:5q13 pathogenic
HEXB, 18-BP INS insertion Hexosaminidase B (paris) [RCV000004080] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.1367A>C (p.Tyr456Ser) single nucleotide variant Sandhoff disease [RCV000675054]|Sandhoff disease, juvenile type [RCV000004081] Chr5:74718921 [GRCh38]
Chr5:74014746 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu) single nucleotide variant Sandhoff disease [RCV000174009]|Sandhoff disease, adult type [RCV000004084]|Sandhoff disease, juvenile type [RCV000004082]|not provided [RCV000079058] Chr5:74718804 [GRCh38]
Chr5:74014629 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1514G>A (p.Arg505Gln) single nucleotide variant Sandhoff disease [RCV000669552]|Sandhoff disease, adult type [RCV000004083] Chr5:74720648 [GRCh38]
Chr5:74016473 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr) single nucleotide variant HEXOSAMINIDASE B, HEAT-LABILE POLYMORPHISM [RCV000004085]|Sandhoff disease [RCV000987527]|not provided [RCV000079061] Chr5:74721131 [GRCh38]
Chr5:74016956 [GRCh37]
Chr5:5q13.3
benign|likely benign|other|not provided
NM_000521.3(HEXB):c.185C>T (p.Ser62Leu) single nucleotide variant Sandhoff disease [RCV000869482]|Sandhoff disease, infantile type [RCV000004086] Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3
pathogenic|benign
HEXB, PARTIAL DEL deletion Sandhoff disease, infantile type [RCV000004087] Chr5:5q13 pathogenic
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser) single nucleotide variant Sandhoff disease [RCV001238377]|Sandhoff disease, chronic [RCV000004088] Chr5:74720644 [GRCh38]
Chr5:74016469 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1082+5G>C single nucleotide variant Sandhoff disease, infantile type [RCV000004089] Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.76del (p.Met26fs) deletion Sandhoff disease, infantile type [RCV000004090] Chr5:74685336 [GRCh38]
Chr5:73981161 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter) single nucleotide variant Sandhoff disease [RCV000184012]|Sandhoff disease, infantile type [RCV000004091]|not provided [RCV000579011] Chr5:74713584 [GRCh38]
Chr5:74009409 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4:c.965del deletion Sandhoff disease, infantile [RCV000004092] Chr5:5q13 pathogenic
GRCh38/hg38 5q13.3-22.1(chr5:74163186-110809453)x3 copy number gain See cases [RCV000051839] Chr5:74163186..110809453 [GRCh38]
Chr5:73459011..110145153 [GRCh37]
Chr5:73494767..110173052 [NCBI36]
Chr5:5q13.3-22.1
pathogenic
NM_000521.4(HEXB):c.115del (p.Val39fs) deletion Sandhoff disease [RCV001004173]|not provided [RCV000173146] Chr5:74685374 [GRCh38]
Chr5:73981199 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1169+3_1169+10del deletion Sandhoff disease [RCV001028022]|not provided [RCV000079055] Chr5:74716675..74716682 [GRCh38]
Chr5:74012500..74012507 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_000521.4(HEXB):c.1234_1238AAAGC[1] (p.Lys414fs) deletion not provided [RCV000173703] Chr5:74718355..74718359 [GRCh38]
Chr5:74014180..74014184 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1243-2A>G single nucleotide variant Sandhoff disease [RCV000174010]|not provided [RCV000079057] Chr5:74718795 [GRCh38]
Chr5:74014620 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1375G>T (p.Asp459Tyr) single nucleotide variant not provided [RCV000174011] Chr5:74718929 [GRCh38]
Chr5:74014754 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-14C>A single nucleotide variant Sandhoff disease [RCV000673104]|not specified [RCV000079060] Chr5:74721104 [GRCh38]
Chr5:74016929 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1645G>A (p.Gly549Arg) single nucleotide variant not provided [RCV000079062] Chr5:74721149 [GRCh38]
Chr5:74016974 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.587A>C (p.Asp196Ala) single nucleotide variant not provided [RCV000079064] Chr5:74697024 [GRCh38]
Chr5:73992849 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.619A>G (p.Ile207Val) single nucleotide variant HEXB POLYMORPHISM [RCV000235014]|Sandhoff disease [RCV000403428]|not provided [RCV000675619]|not specified [RCV000079065] Chr5:74697056 [GRCh38]
Chr5:73992881 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000521.4(HEXB):c.772-4A>G single nucleotide variant Sandhoff disease [RCV000351167]|not provided [RCV000590368]|not specified [RCV000079066] Chr5:74713502 [GRCh38]
Chr5:74009327 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.797A>G (p.Tyr266Cys) single nucleotide variant not provided [RCV000179766] Chr5:74713531 [GRCh38]
Chr5:74009356 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.895G>A (p.Gly299Arg) single nucleotide variant not provided [RCV000079068] Chr5:74713629 [GRCh38]
Chr5:74009454 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.3(HEXB):c.902-50delT deletion AllHighlyPenetrant [RCV000079069]|not specified [RCV000079069] Chr5:74715460 [GRCh38]
Chr5:74011285 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1051T>C (p.Leu351=) single nucleotide variant Sandhoff disease [RCV000397650]|not specified [RCV000117218] Chr5:74715659 [GRCh38]
Chr5:74011484 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.214C>T (p.Leu72Phe) single nucleotide variant Sandhoff disease [RCV001082206]|not provided [RCV000224126]|not specified [RCV000117219] Chr5:74685474 [GRCh38]
Chr5:73981299 [GRCh37]
Chr5:5q13.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1478T>G (p.Val493Gly) single nucleotide variant not provided [RCV000174253] Chr5:74720488 [GRCh38]
Chr5:74016313 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1517_1529dup (p.Glu511fs) duplication not provided [RCV000174487] Chr5:74720648..74720649 [GRCh38]
Chr5:74016473..74016474 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1531_1532GA[2] (p.Arg512fs) microsatellite Sandhoff disease [RCV000174488]|not provided [RCV000724463] Chr5:74720665..74720666 [GRCh38]
Chr5:74016490..74016491 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.3(HEXB):c.1616_1617insTTCATGTTATCTACAGAC (p.Arg539_Gly540insSerCysTyrLeuGlnThr) insertion not provided [RCV000174689] Chr5:74721120..74721121 [GRCh38]
Chr5:74016945..74016946 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh38/hg38 5q13.3(chr5:74715712-74767984)x3 copy number gain See cases [RCV000141307] Chr5:74715712..74767984 [GRCh38]
Chr5:74011537..74063809 [GRCh37]
Chr5:74047293..74099565 [NCBI36]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser) single nucleotide variant Sandhoff disease [RCV000987526]|not specified [RCV000153357] Chr5:74685445 [GRCh38]
Chr5:73981270 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.311A>G (p.Tyr104Cys) single nucleotide variant Sandhoff disease [RCV001270125]|not provided [RCV000175617] Chr5:74689339 [GRCh38]
Chr5:73985164 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.771+5G>C single nucleotide variant not provided [RCV000179319] Chr5:74705325 [GRCh38]
Chr5:74001150 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.1601G>T (p.Cys534Phe) single nucleotide variant not provided [RCV000153359] Chr5:74720735 [GRCh38]
Chr5:74016560 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1652G>A (p.Cys551Tyr) single nucleotide variant Sandhoff disease [RCV000674784]|not provided [RCV000153360] Chr5:74721156 [GRCh38]
Chr5:74016981 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_001292004.1(HEXB):c.-377+8338A>G single nucleotide variant Lung cancer [RCV000096167] Chr5:74648896 [GRCh38]
Chr5:73944721 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.127G>T (p.Ala43Ser) single nucleotide variant Sandhoff disease [RCV000671169]|not specified [RCV000194629] Chr5:74685387 [GRCh38]
Chr5:73981212 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.298del (p.Arg100fs) deletion Sandhoff disease [RCV000668469]|not provided [RCV000255439] Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1418-12_1418del deletion Sandhoff disease [RCV000669423] Chr5:74720415..74720427 [GRCh38]
Chr5:74016240..74016252 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.449C>A (p.Thr150Asn) single nucleotide variant Sandhoff disease [RCV001085568]|not provided [RCV000224288]|not specified [RCV000246282] Chr5:74693642 [GRCh38]
Chr5:73989467 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1559_1560GA[4] (p.Asp521fs) microsatellite Sandhoff disease [RCV000669540] Chr5:74720691..74720692 [GRCh38]
Chr5:74016516..74016517 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.558+5G>A single nucleotide variant Sandhoff disease [RCV000669675] Chr5:74696744 [GRCh38]
Chr5:73992569 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.118del (p.Ala40fs) deletion Sandhoff disease [RCV000669727] Chr5:74685377 [GRCh38]
Chr5:73981202 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.300-32C>T single nucleotide variant not specified [RCV000248560] Chr5:74689296 [GRCh38]
Chr5:73985121 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.902-48del deletion not specified [RCV000250878] Chr5:74715460 [GRCh38]
Chr5:74011285 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter) single nucleotide variant Sandhoff disease [RCV000286253]|not provided [RCV000723437] Chr5:74693701 [GRCh38]
Chr5:73989526 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.300-46T>A single nucleotide variant not specified [RCV000251490] Chr5:74689282 [GRCh38]
Chr5:73985107 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+26T>A single nucleotide variant not specified [RCV000247070] Chr5:74715716 [GRCh38]
Chr5:74011541 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1258A>G (p.Ile420Val) single nucleotide variant Sandhoff disease [RCV000268566]|not provided [RCV000514555]|not specified [RCV000252021] Chr5:74718812 [GRCh38]
Chr5:74014637 [GRCh37]
Chr5:5q13.3
benign|likely benign
NM_000521.4(HEXB):c.558+45G>A single nucleotide variant not specified [RCV000249577] Chr5:74696784 [GRCh38]
Chr5:73992609 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.445+1G>C single nucleotide variant Sandhoff disease [RCV000709991]|not specified [RCV000248071] Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|benign
NM_000521.4(HEXB):c.446-13A>G single nucleotide variant not specified [RCV000253018] Chr5:74693626 [GRCh38]
Chr5:73989451 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.842G>A (p.Arg281Gln) single nucleotide variant Sandhoff disease [RCV000397655] Chr5:74713576 [GRCh38]
Chr5:74009401 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1248G>A (p.Ala416=) single nucleotide variant Sandhoff disease [RCV000363000] Chr5:74718802 [GRCh38]
Chr5:74014627 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1082+5G>A single nucleotide variant Sandhoff disease [RCV000308357] Chr5:74715695 [GRCh38]
Chr5:74011520 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.*105T>C single nucleotide variant Sandhoff disease [RCV000278139] Chr5:74721280 [GRCh38]
Chr5:74017105 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1612G>A (p.Glu538Lys) single nucleotide variant Sandhoff disease [RCV000359685] Chr5:74720746 [GRCh38]
Chr5:74016571 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1035A>C (p.Pro345=) single nucleotide variant Sandhoff disease [RCV000366647] Chr5:74715643 [GRCh38]
Chr5:74011468 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.918G>C (p.Leu306=) single nucleotide variant Sandhoff disease [RCV000311611] Chr5:74715526 [GRCh38]
Chr5:74011351 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.*40A>C single nucleotide variant Sandhoff disease [RCV000317974] Chr5:74721215 [GRCh38]
Chr5:74017040 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) single nucleotide variant Sandhoff disease [RCV000666419]|not provided [RCV000372047] Chr5:74696733 [GRCh38]
Chr5:73992558 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.*82_*83del deletion Sandhoff disease [RCV000372579] Chr5:74721256..74721257 [GRCh38]
Chr5:74017081..74017082 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.78G>A (p.Met26Ile) single nucleotide variant Sandhoff disease [RCV000281221] Chr5:74685338 [GRCh38]
Chr5:73981163 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.833C>T (p.Ala278Val) single nucleotide variant Sandhoff disease [RCV000784909]|not provided [RCV000312602] Chr5:74713567 [GRCh38]
Chr5:74009392 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1613+14del deletion Sandhoff disease [RCV000265045] Chr5:74720760 [GRCh38]
Chr5:74016585 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs) deletion Sandhoff disease [RCV000390326]|not provided [RCV000723406] Chr5:74715629..74715632 [GRCh38]
Chr5:74011454..74011457 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1045A>G (p.Ile349Val) single nucleotide variant Sandhoff disease [RCV001279184] Chr5:74715653 [GRCh38]
Chr5:74011478 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.-126C>T single nucleotide variant Sandhoff disease [RCV000343015]|not provided [RCV000841649] Chr5:74685135 [GRCh38]
Chr5:73980960 [GRCh37]
Chr5:5q13.3
benign
NM_001292004.2(HEXB):c.-376-4119C>A single nucleotide variant Sandhoff disease [RCV000320555] Chr5:74685209 [GRCh38]
Chr5:73981034 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.670-14_670-13del microsatellite Sandhoff disease [RCV000296290] Chr5:74705203..74705204 [GRCh38]
Chr5:74001028..74001029 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_001292004.1(HEXB):c.-376-4189del deletion Sandhoff disease [RCV000406221] Chr5:74685139 [GRCh38]
Chr5:73980964 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.-14G>A single nucleotide variant Sandhoff disease [RCV000375729] Chr5:74685247 [GRCh38]
Chr5:73981072 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.978G>C (p.Leu326=) single nucleotide variant Sandhoff disease [RCV000896988]|not specified [RCV000587177] Chr5:74715586 [GRCh38]
Chr5:74011411 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.274_277dup (p.Leu93fs) duplication not provided [RCV000414696] Chr5:74685532..74685533 [GRCh38]
Chr5:73981357..73981358 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.838T>A (p.Leu280Ile) single nucleotide variant not specified [RCV000414653] Chr5:74713572 [GRCh38]
Chr5:74009397 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.272G>C (p.Cys91Ser) single nucleotide variant Sandhoff disease [RCV000415095] Chr5:74685532 [GRCh38]
Chr5:73981357 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser) single nucleotide variant Sandhoff disease [RCV000984275]|not provided [RCV000414444] Chr5:74718971 [GRCh38]
Chr5:74014796 [GRCh37]
Chr5:5q13.3
likely pathogenic|uncertain significance
NM_000521.4(HEXB):c.299G>C (p.Arg100Pro) single nucleotide variant Sandhoff disease [RCV000449491] Chr5:74685559 [GRCh38]
Chr5:73981384 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73979022-73993252)x1 copy number loss See cases [RCV000447398] Chr5:73979022..73993252 [GRCh37]
Chr5:5q13.3
conflicting data from submitters
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_000521.4(HEXB):c.796T>G (p.Tyr266Asp) single nucleotide variant Sandhoff disease [RCV000669074]|not provided [RCV000427051] Chr5:74713530 [GRCh38]
Chr5:74009355 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1630C>A (p.Gln544Lys) single nucleotide variant not provided [RCV000482174] Chr5:74721134 [GRCh38]
Chr5:74016959 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys) single nucleotide variant Sandhoff disease [RCV000502357] Chr5:74720731 [GRCh38]
Chr5:74016556 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.778T>C (p.Tyr260His) single nucleotide variant Sandhoff disease [RCV000500181] Chr5:74713512 [GRCh38]
Chr5:74009337 [GRCh37]
Chr5:5q13.3
likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter) single nucleotide variant Sandhoff disease [RCV000491131] Chr5:74685430 [GRCh38]
Chr5:73981255 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.10:g.(?_74685241)_(74697126_?)del deletion Sandhoff disease [RCV000633009] Chr5:74685241..74697126 [GRCh38]
Chr5:73981066..73992951 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.902-1G>T single nucleotide variant Sandhoff disease [RCV000672264] Chr5:74715509 [GRCh38]
Chr5:74011334 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-16_1615dup duplication Sandhoff disease [RCV000674261]|not provided [RCV000596163] Chr5:74721101..74721102 [GRCh38]
Chr5:74016926..74016927 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.61_72del (p.Thr21_Ala24del) deletion Sandhoff disease [RCV000671971] Chr5:74685316..74685327 [GRCh38]
Chr5:73981141..73981152 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.715G>A (p.Val239Ile) single nucleotide variant Sandhoff disease [RCV000612023] Chr5:74705264 [GRCh38]
Chr5:74001089 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.500G>C (p.Gly167Ala) single nucleotide variant Sandhoff disease [RCV000633007] Chr5:74693693 [GRCh38]
Chr5:73989518 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1509-26G>A single nucleotide variant Sandhoff disease [RCV000633008] Chr5:74720617 [GRCh38]
Chr5:74016442 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1615C>T (p.Arg539Cys) single nucleotide variant Sandhoff disease [RCV000664782] Chr5:74721119 [GRCh38]
Chr5:74016944 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417+5G>A single nucleotide variant Sandhoff disease [RCV000673197] Chr5:74718976 [GRCh38]
Chr5:74014801 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.299+1G>A single nucleotide variant Sandhoff disease [RCV000664552] Chr5:74685560 [GRCh38]
Chr5:73981385 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.230_232del (p.Phe77del) deletion Sandhoff disease [RCV000670595] Chr5:74685488..74685490 [GRCh38]
Chr5:73981313..73981315 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.512-3C>A single nucleotide variant Sandhoff disease [RCV000671236] Chr5:74696690 [GRCh38]
Chr5:73992515 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.825del (p.Ile275fs) deletion Sandhoff disease [RCV000670270] Chr5:74713558 [GRCh38]
Chr5:74009383 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1303_1304AG[1] (p.Arg435fs) microsatellite Sandhoff disease [RCV000669759] Chr5:74718857..74718858 [GRCh38]
Chr5:74014682..74014683 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1611_1613+2del deletion Sandhoff disease [RCV000665204] Chr5:74720743..74720747 [GRCh38]
Chr5:74016568..74016572 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1389C>G (p.Tyr463Ter) single nucleotide variant Sandhoff disease [RCV000673828] Chr5:74718943 [GRCh38]
Chr5:74014768 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1425_1430GAAACA[1] (p.476_477KQ[1]) microsatellite Sandhoff disease [RCV000668414] Chr5:74720433..74720438 [GRCh38]
Chr5:74016258..74016263 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.146C>A (p.Ser49Ter) single nucleotide variant Sandhoff disease [RCV000671547] Chr5:74685406 [GRCh38]
Chr5:73981231 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.62_76del (p.Thr21_Ala25del) deletion Sandhoff disease [RCV000674477] Chr5:74685317..74685331 [GRCh38]
Chr5:73981142..73981156 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.56del (p.Leu19fs) deletion Sandhoff disease [RCV000674483] Chr5:74685315 [GRCh38]
Chr5:73981140 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.*4dup (p.Ter557=) duplication Sandhoff disease [RCV000667019] Chr5:74721173..74721174 [GRCh38]
Chr5:74016998..74016999 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.512-1G>T single nucleotide variant Sandhoff disease [RCV000673291] Chr5:74696692 [GRCh38]
Chr5:73992517 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.88_105del (p.Leu30_Leu35del) deletion Sandhoff disease [RCV000664678] Chr5:74685340..74685357 [GRCh38]
Chr5:73981165..73981182 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.965del (p.Ile322fs) deletion Sandhoff disease [RCV000673580]|Sandhoff disease, infantile type [RCV000004092] Chr5:74715573 [GRCh38]
Chr5:74011398 [GRCh37]
Chr5:5q13.3
pathogenic|likely pathogenic
NM_000521.4(HEXB):c.1614-25_1614-7dup duplication Sandhoff disease [RCV000669973] Chr5:74721092..74721093 [GRCh38]
Chr5:74016917..74016918 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.448A>C (p.Thr150Pro) single nucleotide variant Sandhoff disease [RCV000670728] Chr5:74693641 [GRCh38]
Chr5:73989466 [GRCh37]
Chr5:5q13.3
conflicting interpretations of pathogenicity|uncertain significance
NM_000521.4(HEXB):c.1613+15_1613+18dup duplication Sandhoff disease [RCV000671283] Chr5:74720760..74720761 [GRCh38]
Chr5:74016585..74016586 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.171del (p.Trp57fs) deletion Sandhoff disease [RCV000673881] Chr5:74685430 [GRCh38]
Chr5:73981255 [GRCh37]
Chr5:5q13.3
pathogenic
NM_032380.5(GFM2):c.2239dup (p.Thr747fs) duplication Sandhoff disease [RCV000673981] Chr5:74721755..74721756 [GRCh38]
Chr5:74017580..74017581 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.333G>A (p.Trp111Ter) single nucleotide variant Sandhoff disease [RCV000674196] Chr5:74689361 [GRCh38]
Chr5:73985186 [GRCh37]
Chr5:5q13.3
pathogenic
NM_032380.5(GFM2):c.2230C>T (p.Arg744Ter) single nucleotide variant Sandhoff disease [RCV000671110] Chr5:74721765 [GRCh38]
Chr5:74017590 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.133del (p.Ala45fs) deletion Sandhoff disease [RCV000667714] Chr5:74685391 [GRCh38]
Chr5:73981216 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-8_1614-6dup duplication Sandhoff disease [RCV000672849] Chr5:74721109..74721110 [GRCh38]
Chr5:74016934..74016935 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_032380.5(GFM2):c.2296C>T (p.Gln766Ter) single nucleotide variant Sandhoff disease [RCV000664438] Chr5:74721699 [GRCh38]
Chr5:74017524 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1627_1638del (p.Ala543_Leu546del) deletion Sandhoff disease [RCV000671549] Chr5:74721130..74721141 [GRCh38]
Chr5:74016955..74016966 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.300-1G>A single nucleotide variant Sandhoff disease [RCV000668508] Chr5:74689327 [GRCh38]
Chr5:73985152 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.343_351del (p.Pro115_Glu117del) deletion Sandhoff disease [RCV000667162] Chr5:74689367..74689375 [GRCh38]
Chr5:73985192..73985200 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1575_1590dup (p.Arg531delinsLeuTer) duplication Sandhoff disease [RCV000674128] Chr5:74720708..74720709 [GRCh38]
Chr5:74016533..74016534 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.341_343del (p.Glu114_Pro115delinsAla) deletion Sandhoff disease [RCV000665099] Chr5:74689369..74689371 [GRCh38]
Chr5:73985194..73985196 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1242G>A (p.Lys414=) single nucleotide variant Sandhoff disease [RCV000674299] Chr5:74718363 [GRCh38]
Chr5:74014188 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.70_90del (p.Ala24_Leu30del) deletion Sandhoff disease [RCV000674425] Chr5:74685324..74685344 [GRCh38]
Chr5:73981149..73981169 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.73_84del (p.Ala25_Ala28del) deletion Sandhoff disease [RCV000666620] Chr5:74685328..74685339 [GRCh38]
Chr5:73981153..73981164 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1520del (p.Ser507fs) deletion Sandhoff disease [RCV000667704] Chr5:74720654 [GRCh38]
Chr5:74016479 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1614-16_1622dup duplication Sandhoff disease [RCV000685380] Chr5:74721101..74721102 [GRCh38]
Chr5:74016926..74016927 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.160C>A (p.Pro54Thr) single nucleotide variant Sandhoff disease [RCV000691227] Chr5:74685420 [GRCh38]
Chr5:73981245 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.986C>T (p.Thr329Ile) single nucleotide variant Sandhoff disease [RCV000688835] Chr5:74715594 [GRCh38]
Chr5:74011419 [GRCh37]
Chr5:5q13.3
uncertain significance
NC_000005.10:g.(?_74685261)_(74697106_?)del deletion Sandhoff disease [RCV000707942] Chr5:74685261..74697106 [GRCh38]
Chr5:73981086..73992931 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73980065-73993871)x1 copy number loss not provided [RCV000744855] Chr5:73980065..73993871 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1082+7T>A single nucleotide variant not provided [RCV000976450] Chr5:74715697 [GRCh38]
Chr5:74011522 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.841C>T (p.Arg281Ter) single nucleotide variant Sandhoff disease [RCV000761439] Chr5:74713575 [GRCh38]
Chr5:74009400 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.298C>T (p.Arg100Ter) single nucleotide variant Sandhoff disease [RCV000761558] Chr5:74685558 [GRCh38]
Chr5:73981383 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.42G>A (p.Leu14=) single nucleotide variant Sandhoff disease [RCV000975338] Chr5:74685302 [GRCh38]
Chr5:73981127 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1269A>G (p.Val423=) single nucleotide variant Sandhoff disease [RCV000971880] Chr5:74718823 [GRCh38]
Chr5:74014648 [GRCh37]
Chr5:5q13.3
likely benign|conflicting interpretations of pathogenicity
NM_000521.4(HEXB):c.1418-5T>C single nucleotide variant Sandhoff disease [RCV000928841] Chr5:74720423 [GRCh38]
Chr5:74016248 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1029G>A (p.Val343=) single nucleotide variant not provided [RCV000927867] Chr5:74715637 [GRCh38]
Chr5:74011462 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1637T>C (p.Leu546Pro) single nucleotide variant Sandhoff disease [RCV001048153] Chr5:74721141 [GRCh38]
Chr5:74016966 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1481A>G (p.Asp494Gly) single nucleotide variant Sandhoff disease [RCV001078201] Chr5:74720491 [GRCh38]
Chr5:74016316 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.64_65del (p.Leu22fs) deletion Sandhoff disease [RCV001067035] Chr5:74685324..74685325 [GRCh38]
Chr5:73981149..73981150 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1082+2T>C single nucleotide variant Sandhoff disease [RCV001038156] Chr5:74715692 [GRCh38]
Chr5:74011517 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.509G>A (p.Arg170Gln) single nucleotide variant Sandhoff disease [RCV001271416]|not specified [RCV000781465] Chr5:74693702 [GRCh38]
Chr5:73989527 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.445+1G>A single nucleotide variant Sandhoff disease [RCV000781464] Chr5:74689474 [GRCh38]
Chr5:73985299 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.3:c.-2059_669+1737del deletion Sandhoff disease [RCV000781940] Chr5:5q13.3 pathogenic
NM_000521.4(HEXB):c.16C>T (p.Leu6=) single nucleotide variant not provided [RCV000977210] Chr5:74685276 [GRCh38]
Chr5:73981101 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.150C>T (p.Ala50=) single nucleotide variant Sandhoff disease [RCV001274211]|not provided [RCV000941820] Chr5:74685410 [GRCh38]
Chr5:73981235 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.69G>A (p.Leu23=) single nucleotide variant not provided [RCV000940933] Chr5:74685329 [GRCh38]
Chr5:73981154 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1243-6T>C single nucleotide variant Sandhoff disease [RCV000872703]|not specified [RCV001175477] Chr5:74718791 [GRCh38]
Chr5:74014616 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1572C>T (p.Asp524=) single nucleotide variant Sandhoff disease [RCV000919377] Chr5:74720706 [GRCh38]
Chr5:74016531 [GRCh37]
Chr5:5q13.3
likely benign
NC_000005.10:g.74685135C>T single nucleotide variant not provided [RCV000841649] Chr5:73980960 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.445+236T>C single nucleotide variant not provided [RCV000841650] Chr5:74689709 [GRCh38]
Chr5:73985534 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1614-4A>G single nucleotide variant Sandhoff disease [RCV000937001] Chr5:74721114 [GRCh38]
Chr5:74016939 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.410G>A (p.Cys137Tyr) single nucleotide variant Sandhoff disease [RCV000796892] Chr5:74689438 [GRCh38]
Chr5:73985263 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.839T>G (p.Leu280Ter) single nucleotide variant Sandhoff disease [RCV000823115] Chr5:74713573 [GRCh38]
Chr5:74009398 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1010dup (p.Lys338fs) duplication Sandhoff disease [RCV000823847] Chr5:74715613..74715614 [GRCh38]
Chr5:74011438..74011439 [GRCh37]
Chr5:5q13.3
pathogenic
NM_001292004.2(HEXB):c.-376-4450A>T single nucleotide variant not provided [RCV000840394] Chr5:74684878 [GRCh38]
Chr5:73980703 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.171_176delinsCCCCC (p.Trp57fs) indel Sandhoff disease [RCV000815579] Chr5:74685431..74685436 [GRCh38]
Chr5:73981256..73981261 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1448G>C (p.Gly483Ala) single nucleotide variant Sandhoff disease [RCV000790389] Chr5:74720458 [GRCh38]
Chr5:74016283 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000846928] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_000521.4(HEXB):c.1083-14A>C single nucleotide variant Sandhoff disease [RCV001151447] Chr5:74716573 [GRCh38]
Chr5:74012398 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000846158] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.383T>G (p.Leu128Arg) single nucleotide variant Sandhoff disease [RCV000872361] Chr5:74689411 [GRCh38]
Chr5:73985236 [GRCh37]
Chr5:5q13.3
likely benign
NM_001292004.2(HEXB):c.-376-4449T>G single nucleotide variant not provided [RCV000840396] Chr5:74684879 [GRCh38]
Chr5:73980704 [GRCh37]
Chr5:5q13.3
benign
NM_001292004.2(HEXB):c.-376-4354G>C single nucleotide variant not provided [RCV000840397] Chr5:74684974 [GRCh38]
Chr5:73980799 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.299+278G>A single nucleotide variant not provided [RCV000840399] Chr5:74685837 [GRCh38]
Chr5:73981662 [GRCh37]
Chr5:5q13.3
benign
NC_000005.10:g.(?_74685251)_(74697116_?)del deletion Sandhoff disease [RCV000798158] Chr5:74685251..74697116 [GRCh38]
Chr5:73981076..73992941 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.672T>C (p.Asp224=) single nucleotide variant Sandhoff disease [RCV001274212]|not provided [RCV000914404] Chr5:74705221 [GRCh38]
Chr5:74001046 [GRCh37]
Chr5:5q13.3
likely benign|uncertain significance
NM_000521.4(HEXB):c.1417+229T>C single nucleotide variant not provided [RCV000829704] Chr5:74719200 [GRCh38]
Chr5:74015025 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1625C>T (p.Ala542Val) single nucleotide variant Sandhoff disease [RCV000801007] Chr5:74721129 [GRCh38]
Chr5:74016954 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1345del (p.Trp449fs) deletion Sandhoff disease [RCV001194423] Chr5:74718898 [GRCh38]
Chr5:74014723 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1667T>C (p.Met556Thr) single nucleotide variant Sandhoff disease [RCV001154476]|not provided [RCV000998400] Chr5:74721171 [GRCh38]
Chr5:74016996 [GRCh37]
Chr5:5q13.3
uncertain significance
GRCh37/hg19 5q13.3(chr5:73974274-74011878)x1 copy number loss not provided [RCV000847623] Chr5:73974274..74011878 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.2-15(chr5:72790061-97478870)x3 copy number gain not provided [RCV001005683] Chr5:72790061..97478870 [GRCh37]
Chr5:5q13.2-15
pathogenic
NM_000521.4(HEXB):c.1589C>G (p.Thr530Arg) single nucleotide variant Sandhoff disease [RCV001175296] Chr5:74720723 [GRCh38]
Chr5:74016548 [GRCh37]
Chr5:5q13.3
not provided
NM_000521.4(HEXB):c.283del (p.Glu95fs) deletion Sandhoff disease [RCV001240185] Chr5:74685542 [GRCh38]
Chr5:73981367 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.59C>A (p.Ala20Glu) single nucleotide variant Sandhoff disease [RCV001242017] Chr5:74685319 [GRCh38]
Chr5:73981144 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.878G>C (p.Gly293Ala) single nucleotide variant Sandhoff disease [RCV001239378] Chr5:74713612 [GRCh38]
Chr5:74009437 [GRCh37]
Chr5:5q13.3
uncertain significance
NC_000005.10:g.74713507del deletion Sandhoff disease [RCV001239339] Chr5:74713505 [GRCh38]
Chr5:74009330 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.3(chr5:73978700-73993202)x1 copy number loss not provided [RCV000847565] Chr5:73978700..73993202 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.761T>C (p.Leu254Ser) single nucleotide variant Sandhoff disease [RCV000993713] Chr5:74705310 [GRCh38]
Chr5:74001135 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.331T>C (p.Trp111Arg) single nucleotide variant Sandhoff disease [RCV001246112] Chr5:74689359 [GRCh38]
Chr5:73985184 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.156G>A (p.Pro52=) single nucleotide variant Sandhoff disease [RCV001155218] Chr5:74685416 [GRCh38]
Chr5:73981241 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1082+13C>T single nucleotide variant Sandhoff disease [RCV001151446] Chr5:74715703 [GRCh38]
Chr5:74011528 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.276C>T (p.Thr92=) single nucleotide variant Sandhoff disease [RCV000873106] Chr5:74685536 [GRCh38]
Chr5:73981361 [GRCh37]
Chr5:5q13.3
benign
NM_000521.4(HEXB):c.1149A>G (p.Leu383=) single nucleotide variant Sandhoff disease [RCV000979818] Chr5:74716653 [GRCh38]
Chr5:74012478 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1614-10T>C single nucleotide variant not provided [RCV000932760] Chr5:74721108 [GRCh38]
Chr5:74016933 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.771+9A>G single nucleotide variant not provided [RCV000939965] Chr5:74705329 [GRCh38]
Chr5:74001154 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1374A>G (p.Gln458=) single nucleotide variant Sandhoff disease [RCV000933373] Chr5:74718928 [GRCh38]
Chr5:74014753 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.1040A>T (p.Gln347Leu) single nucleotide variant Sandhoff disease [RCV001221870] Chr5:74715648 [GRCh38]
Chr5:74011473 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1474_1477delinsAA (p.Tyr492fs) indel Sandhoff disease [RCV001244478] Chr5:74720484..74720487 [GRCh38]
Chr5:74016309..74016312 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1294dup (p.Glu432fs) duplication Sandhoff disease [RCV001056488] Chr5:74718846..74718847 [GRCh38]
Chr5:74014671..74014672 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.571_574del (p.Glu191fs) deletion Sandhoff disease [RCV001224279] Chr5:74697005..74697008 [GRCh38]
Chr5:73992830..73992833 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.94C>T (p.Gln32Ter) single nucleotide variant Sandhoff disease [RCV000985063] Chr5:74685354 [GRCh38]
Chr5:73981179 [GRCh37]
Chr5:5q13.3
pathogenic
GRCh37/hg19 5q13.2-13.3(chr5:72829994-74076751)x3 copy number gain not provided [RCV001005684] Chr5:72829994..74076751 [GRCh37]
Chr5:5q13.2-13.3
uncertain significance
NM_000521.4(HEXB):c.652_654ATT[1] (p.Ile219del) microsatellite Sandhoff disease [RCV001090117] Chr5:74697089..74697091 [GRCh38]
Chr5:73992914..73992916 [GRCh37]
Chr5:5q13.3
pathogenic|uncertain significance
NM_001292004.2(HEXB):c.-376-4129G>A single nucleotide variant Sandhoff disease [RCV001155217] Chr5:74685199 [GRCh38]
Chr5:73981024 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.669G>A (p.Leu223=) single nucleotide variant Sandhoff disease [RCV001156876] Chr5:74697106 [GRCh38]
Chr5:73992931 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1445T>C (p.Ile482Thr) single nucleotide variant Sandhoff disease [RCV001245816] Chr5:74720455 [GRCh38]
Chr5:74016280 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1538T>C (p.Leu513Pro) single nucleotide variant Sandhoff disease [RCV001193758] Chr5:74720672 [GRCh38]
Chr5:74016497 [GRCh37]
Chr5:5q13.3
pathogenic
NM_001292004.2(HEXB):c.-376-4130G>A single nucleotide variant Sandhoff disease [RCV001155216] Chr5:74685198 [GRCh38]
Chr5:73981023 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.451_452dup (p.Leu151fs) duplication Sandhoff disease [RCV001043436] Chr5:74693642..74693643 [GRCh38]
Chr5:73989467..73989468 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1021_1023delinsTCAAA (p.Glu342fs) indel Sandhoff disease [RCV001053207] Chr5:74715629..74715631 [GRCh38]
Chr5:74011454..74011456 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1642_1657del (p.Ala548fs) deletion Sandhoff disease [RCV001206614] Chr5:74721146..74721161 [GRCh38]
Chr5:74016971..74016986 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.559-1G>T single nucleotide variant Sandhoff disease [RCV001234727] Chr5:74696995 [GRCh38]
Chr5:73992820 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.558+1G>C single nucleotide variant Sandhoff disease [RCV001058264] Chr5:74696740 [GRCh38]
Chr5:73992565 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1310_1311del (p.Thr437fs) microsatellite Sandhoff disease [RCV001233820] Chr5:74718862..74718863 [GRCh38]
Chr5:74014687..74014688 [GRCh37]
Chr5:5q13.3
pathogenic
NM_000521.4(HEXB):c.1265A>T (p.Glu422Val) single nucleotide variant Sandhoff disease [RCV001218156]|not specified [RCV001194422] Chr5:74718819 [GRCh38]
Chr5:74014644 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.249C>T (p.Pro83=) single nucleotide variant not provided [RCV001171848] Chr5:74685509 [GRCh38]
Chr5:73981334 [GRCh37]
Chr5:5q13.3
likely benign
NM_000521.4(HEXB):c.563C>T (p.Thr188Ile) single nucleotide variant Sandhoff disease [RCV001062976] Chr5:74697000 [GRCh38]
Chr5:73992825 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1417+11C>T single nucleotide variant Sandhoff disease [RCV001151448] Chr5:74718982 [GRCh38]
Chr5:74014807 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1513C>T (p.Arg505Trp) single nucleotide variant not specified [RCV001251393] Chr5:74720647 [GRCh38]
Chr5:74016472 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.1242+3G>T single nucleotide variant Sandhoff disease [RCV001264795] Chr5:74718366 [GRCh38]
Chr5:74014191 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1057G>C (p.Gly353Arg) single nucleotide variant Inborn genetic diseases [RCV001265747] Chr5:74715665 [GRCh38]
Chr5:74011490 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1069G>T (p.Glu357Ter) single nucleotide variant Sandhoff disease [RCV001264377] Chr5:74715677 [GRCh38]
Chr5:74011502 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1082G>A (p.Trp361Ter) single nucleotide variant Sandhoff disease [RCV001264378] Chr5:74715690 [GRCh38]
Chr5:74011515 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1287T>G (p.Tyr429Ter) single nucleotide variant Sandhoff disease [RCV001264380] Chr5:74718841 [GRCh38]
Chr5:74014666 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.332G>A (p.Trp111Ter) single nucleotide variant Sandhoff disease [RCV001264046] Chr5:74689360 [GRCh38]
Chr5:73985185 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter) single nucleotide variant Sandhoff disease [RCV001264047] Chr5:74696710 [GRCh38]
Chr5:73992535 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.639T>G (p.Tyr213Ter) single nucleotide variant Sandhoff disease [RCV001264048] Chr5:74697076 [GRCh38]
Chr5:73992901 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1287T>A (p.Tyr429Ter) single nucleotide variant Sandhoff disease [RCV001264379] Chr5:74718841 [GRCh38]
Chr5:74014666 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1583G>T (p.Arg528Ile) single nucleotide variant not specified [RCV001264467] Chr5:74720717 [GRCh38]
Chr5:74016542 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.739C>T (p.Gln247Ter) single nucleotide variant Sandhoff disease [RCV001264374] Chr5:74705288 [GRCh38]
Chr5:74001113 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1024G>T (p.Glu342Ter) single nucleotide variant Sandhoff disease [RCV001264375] Chr5:74715632 [GRCh38]
Chr5:74011457 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1039C>T (p.Gln347Ter) single nucleotide variant Sandhoff disease [RCV001264376] Chr5:74715647 [GRCh38]
Chr5:74011472 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4:c.1_669del deletion Intellectual disability [RCV001263359]   likely pathogenic
NM_000521.4(HEXB):c.703C>T (p.His235Tyr) single nucleotide variant Sandhoff disease [RCV001269215] Chr5:74705252 [GRCh38]
Chr5:74001077 [GRCh37]
Chr5:5q13.3
likely pathogenic
NM_000521.4(HEXB):c.1670A>G (p.Ter557=) single nucleotide variant Sandhoff disease [RCV001279185] Chr5:74721174 [GRCh38]
Chr5:74016999 [GRCh37]
Chr5:5q13.3
uncertain significance
NM_000521.4(HEXB):c.14G>A (p.Gly5Glu) single nucleotide variant Sandhoff disease [RCV001279183] Chr5:74685274 [GRCh38]
Chr5:73981099 [GRCh37]
Chr5:5q13.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4879 AgrOrtholog
COSMIC HEXB COSMIC
Ensembl Genes ENSG00000049860 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000261416 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000423713 UniProtKB/TrEMBL
  ENSP00000424550 UniProtKB/TrEMBL
  ENSP00000424939 UniProtKB/TrEMBL
  ENSP00000426285 ENTREZGENE, UniProtKB/TrEMBL
  ENSP00000426384 UniProtKB/TrEMBL
Ensembl Transcript ENST00000261416 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000503312 UniProtKB/TrEMBL
  ENST00000505859 UniProtKB/TrEMBL
  ENST00000509579 UniProtKB/TrEMBL
  ENST00000511181 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000513336 UniProtKB/TrEMBL
Gene3D-CATH 3.30.379.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000049860 GTEx
HGNC ID HGNC:4879 ENTREZGENE
Human Proteome Map HEXB 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:3074 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3074 ENTREZGENE
OMIM 268800 OMIM
  606873 OMIM
Pfam Glyco_hydro_20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glycohydro_20b2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29257 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 A0A024RAJ6_HUMAN UniProtKB/TrEMBL
  D6REQ8_HUMAN UniProtKB/TrEMBL
  H0Y9B6_HUMAN UniProtKB/TrEMBL
  H0Y9M3_HUMAN UniProtKB/TrEMBL
  H0YA83_HUMAN UniProtKB/TrEMBL
  HEXB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q5URX0 ENTREZGENE, UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-26 HEXB  hexosaminidase subunit beta    hexosaminidase B (beta polypeptide)  Symbol and/or name change 5135510 APPROVED