rs121964876

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar
(G;T)	6.7	False positives possible; otherwise, Hereditary cancer-predisposing syndrome

Make rs121964876(T;T)

Reference

GRCh38 38.1/141

Chromosome

16

Position

68738318

Gene

CDH1

is a	snp
is	mentioned by
dbSNP	rs121964876
dbSNP (classic)	rs121964876
ClinGen	rs121964876
ebi	rs121964876
HLI	rs121964876
Exac	rs121964876
Gnomad	rs121964876
Varsome	rs121964876
LitVar	rs121964876
Map	rs121964876
PheGenI	rs121964876
Biobank	rs121964876
1000 genomes	rs121964876
hgdp	rs121964876
ensembl	rs121964876
geneview	rs121964876
scholar	rs121964876
google	rs121964876
pharmgkb	rs121964876
gwascentral	rs121964876
openSNP	rs121964876
23andMe	rs121964876
SNPshot	rs121964876
SNPdbe	rs121964876
MSV3d	rs121964876
GWAS Ctlg	rs121964876

Max Magnitude

6.7

rs121964876, also known as c.70G>T, p.Glu24Ter, E24* and E24X, represents a very rare mutation in the CDH1 gene on chromosome 16.

This mutation is reported as pathogenic for hereditary diffuse gastric cancer in OMIM (and therefore in ClinVar), inherited dominantly.

23andMe calls rs121964876 by the designation i5004972.

Note also the presence of a different (i5004970, G>A rather than G>T) SNP designation tested by 23andMe at this same position; the G>A change results in a Lysine substitution (instead of the stop codon encoded by the G>T change), with unreported consequences in the literature.

OMIM	192090
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121964876(T;T)
Alt	rs121964876(T;T)
Reference	Rs121964876(G;G)
Significance	Pathogenic
Disease	Hereditary diffuse gastric cancer
Variation	info
Gene	CDH1
CLNDBN	Hereditary diffuse gastric cancer
Reversed	0
HGVS	NC_000016.9:g.68772221G>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000013027.22,