rs121912656

Orientation

minus

Stabilized

minus

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

Make rs121912656(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

7674229

Gene

TP53

is a	snp
is	mentioned by
dbSNP	rs121912656
dbSNP (classic)	rs121912656
ClinGen	rs121912656
ebi	rs121912656
HLI	rs121912656
Exac	rs121912656
Gnomad	rs121912656
Varsome	rs121912656
LitVar	rs121912656
Map	rs121912656
PheGenI	rs121912656
Biobank	rs121912656
1000 genomes	rs121912656
hgdp	rs121912656
ensembl	rs121912656
geneview	rs121912656
scholar	rs121912656
google	rs121912656
pharmgkb	rs121912656
gwascentral	rs121912656
openSNP	rs121912656
23andMe	rs121912656
SNPshot	rs121912656
SNPdbe	rs121912656
MSV3d	rs121912656
GWAS Ctlg	rs121912656

Max Magnitude

7

OMIM	191170
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912656(A;A) rs121912656(C;C) rs121912656(T;T)
Alt	rs121912656(A;A) rs121912656(C;C) rs121912656(T;T)
Reference	Rs121912656(G;G)
Significance	Pathogenic
Disease	Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Ovarian Serous Cystadenocarcinoma Neoplasm of brain Glioblastoma Colorectal Neoplasms Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Oesophageal carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Hepatocellular carcinoma Adenocarcinoma of lung Neoplasm of breast Squamous cell carcinoma of lung Brainstem glioma not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome
Variation	info
Gene	TP53
CLNDBN	Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Ovarian Serous Cystadenocarcinoma Neoplasm of brain Glioblastoma Colorectal Neoplasms Uterine Carcinosarcoma Transitional cell carcinoma of the bladder Oesophageal carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Hepatocellular carcinoma Adenocarcinoma of lung Neoplasm of breast Squamous cell carcinoma of lung Brainstem glioma not provided Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome
Reversed	1
HGVS	NC_000017.10:g.7577547C>A; NC_000017.10:g.7577547C>G; NC_000017.10:g.7577547C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000418643.1, RCV000421020.1, RCV000421739.1, RCV000424123.1, RCV000426568.1, RCV000428216.1, RCV000429303.1, RCV000430431.1, RCV000434145.1, RCV000434833.1, RCV000435854.1, RCV000437258.1, RCV000438982.1, RCV000439974.1, RCV000443716.1, RCV000444483.1, RCV000255018.1, RCV000420237.1, RCV000421477.1, RCV000422531.1, RCV000425368.1, RCV000426521.1, RCV000427619.1, RCV000428537.1, RCV000431752.1, RCV000432804.1, RCV000433958.1, RCV000436773.1, RCV000437884.1, RCV000438479.1, RCV000442824.1, RCV000443789.1, RCV000443845.1, RCV000013149.23, RCV000164465.1, RCV000206683.1, RCV000419718.1, RCV000421349.1, RCV000421831.1, RCV000422520.1, RCV000426192.1, RCV000427250.1, RCV000429017.1, RCV000431450.1, RCV000432021.1, RCV000436871.1, RCV000437916.1, RCV000439739.1, RCV000440814.1, RCV000443515.1, RCV000444212.1, RCV000444304.1,