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rs121907970

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 Miscall by Ancestry; actually represents the common/benign genotype
Make rs121907970(T;T)
ReferenceGRCh38 38.1/142
Chromosome15
Position72350584
GeneHEXA
is asnp
is mentioned by
dbSNPrs121907970
dbSNP (classic)rs121907970
ClinGenrs121907970
ebirs121907970
HLIrs121907970
Exacrs121907970
Gnomadrs121907970
Varsomers121907970
LitVarrs121907970
Maprs121907970
PheGenIrs121907970
Biobankrs121907970
1000 genomesrs121907970
hgdprs121907970
ensemblrs121907970
geneviewrs121907970
scholarrs121907970
googlers121907970
pharmgkbrs121907970
gwascentralrs121907970
openSNPrs121907970
23andMers121907970
SNPshotrs121907970
SNPdbers121907970
MSV3drs121907970
GWAS Ctlgrs121907970
GMAF0.0009183
Max Magnitude0

aka c.739C>T (p.Arg247Trp or R247W)

This variant is considered benign by the most recent submitter to ClinVar. It leads to a pseudodeficiency of beta-hexosaminidase A, which means that in the standard enzymatic tests for Tay Sachs that use a synthetic substrate, it will appear to have no HEX A activity (at least if coupled with a second 'disease-causing' allele). However, in the real world (i.e. in the individual and when acting on true substrates), the enzyme is reported to normally be fully functional.[PMID 7902672OA-icon.png]

OMIM606869
Desc
Variant0035
Relatedalso
ClinVar
Risk rs121907970(T;T)
Alt rs121907970(T;T)
Reference Rs121907970(C;C)
Significance Other
Disease Beta-hexosaminidase a not specified not provided
Variation info
Gene HEXA
CLNDBN Beta-hexosaminidase a, pseudodeficiency of not specified not provided
Reversed 1
HGVS NC_000015.9:g.72642925G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000004128.2, RCV000242608.1, RCV000279029.2,