rs121907970

minus

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)

Reference

GRCh38 38.1/142

Chromosome

15

Position

72350584

Gene

HEXA

is a	snp
is	mentioned by
dbSNP	rs121907970
dbSNP (classic)	rs121907970
ClinGen	rs121907970
ebi	rs121907970
HLI	rs121907970
Exac	rs121907970
Gnomad	rs121907970
Varsome	rs121907970
LitVar	rs121907970
Map	rs121907970
PheGenI	rs121907970
Biobank	rs121907970
1000 genomes	rs121907970
hgdp	rs121907970
ensembl	rs121907970
geneview	rs121907970
scholar	rs121907970
google	rs121907970
pharmgkb	rs121907970
gwascentral	rs121907970
openSNP	rs121907970
23andMe	rs121907970
SNPshot	rs121907970
SNPdbe	rs121907970
MSV3d	rs121907970
GWAS Ctlg	rs121907970

GMAF

0.0009183

Max Magnitude

0

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 7902672 ]

OMIM	606869
Desc
Variant	0035
Related	also

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,