rs121912652

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	pathogenic/causal mutation for Li-Fraumeni syndrome
(G;G)	0	common in clinvar
(G;T)	7	Li-Fraumeni Syndrome (predicted)

Make rs121912652(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7674191

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs121912652
dbSNP (classic)	rs121912652
ClinGen	rs121912652
ebi	rs121912652
HLI	rs121912652
Exac	rs121912652
Gnomad	rs121912652
Varsome	rs121912652
LitVar	rs121912652
Map	rs121912652
PheGenI	rs121912652
Biobank	rs121912652
1000 genomes	rs121912652
hgdp	rs121912652
ensembl	rs121912652
geneview	rs121912652
scholar	rs121912652
google	rs121912652
pharmgkb	rs121912652
gwascentral	rs121912652
openSNP	rs121912652
23andMe	rs121912652
SNPshot	rs121912652
SNPdbe	rs121912652
MSV3d	rs121912652
GWAS Ctlg	rs121912652

Max Magnitude

7

OMIM	191170
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912652(A;A)
Alt	rs121912652(A;A)
Reference	Rs121912652(G;G)
Significance	Pathogenic
Disease	Li-Fraumeni syndrome 1 not provided
Variation	info
Gene	TP53
CLNDBN	Li-Fraumeni syndrome 1 not provided
Reversed	1
HGVS	NC_000017.10:g.7577509C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013141.23, RCV000161071.2,