rs121912662

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	7	Li-Fraumeni Syndrome (predicted)
(T;T)	0	common in clinvar

Make rs121912662(C;C)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7670678

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs121912662
dbSNP (classic)	rs121912662
ClinGen	rs121912662
ebi	rs121912662
HLI	rs121912662
Exac	rs121912662
Gnomad	rs121912662
Varsome	rs121912662
LitVar	rs121912662
Map	rs121912662
PheGenI	rs121912662
Biobank	rs121912662
1000 genomes	rs121912662
hgdp	rs121912662
ensembl	rs121912662
geneview	rs121912662
scholar	rs121912662
google	rs121912662
pharmgkb	rs121912662
gwascentral	rs121912662
openSNP	rs121912662
23andMe	rs121912662
SNPshot	rs121912662
SNPdbe	rs121912662
MSV3d	rs121912662
GWAS Ctlg	rs121912662

Max Magnitude

7

aka c.1031T>C, p.Leu344Pro or L344P

OMIM	191170
Desc
Variant	0031
Related	also

ClinVar
Risk	rs121912662(C;C)
Alt	rs121912662(C;C)
Reference	Rs121912662(T;T)
Significance	Pathogenic
Disease	Li-Fraumeni syndrome 1
Variation	info
Gene	TP53
CLNDBN	Li-Fraumeni syndrome 1
Reversed	1
HGVS	NC_000017.10:g.7573996A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013174.26,