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rs121912666

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
Make rs121912666(C;C)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674872
GeneTP53
is asnp
is mentioned by
dbSNPrs121912666
ClinGenrs121912666
ebirs121912666
HLIrs121912666
Exacrs121912666
Varsomers121912666
Maprs121912666
PheGenIrs121912666
hapmaprs121912666
1000 genomesrs121912666
hgdprs121912666
ensemblrs121912666
gopubmedrs121912666
geneviewrs121912666
scholarrs121912666
googlers121912666
pharmgkbrs121912666
gwascentralrs121912666
openSNPrs121912666
23andMers121912666
23andMe allrs121912666
SNP Nexus

SNPshotrs121912666
SNPdbers121912666
MSV3drs121912666
GWAS Ctlgrs121912666
Max Magnitude6
OMIM191170
Desc
Variant0039
Relatedalso
ClinVar
Risk rs121912666(C;C) rs121912666(G;G)
Alt rs121912666(C;C) rs121912666(G;G)
Reference Rs121912666(A;A)
Significance Pathogenic
Disease Hereditary cancer-predisposing syndrome not provided Li-Fraumeni syndrome Glioblastoma Ovarian Serous Cystadenocarcinoma Renal cell carcinoma Malignant neoplasm of body of uterus Neoplasm of breast Squamous cell carcinoma of lung Malignant melanoma of skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Adenocarcinoma of prostate Neoplasm of brain Uterine Carcinosarcoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Adenocarcinoma of lung Colorectal Neoplasms Small cell lung cancer Li-Fraumeni syndrome 1
Variation info
Gene TP53
CLNDBN Hereditary cancer-predisposing syndrome not provided Li-Fraumeni syndrome Glioblastoma Ovarian Serous Cystadenocarcinoma Renal cell carcinoma Malignant neoplasm of body of uterus Neoplasm of breast Squamous cell carcinoma of lung Malignant melanoma of skin Transitional cell carcinoma of the bladder Papillary renal cell carcinoma, sporadic Squamous cell carcinoma of the head and neck Adenocarcinoma of stomach Adenocarcinoma of prostate Neoplasm of brain Uterine Carcinosarcoma Hepatocellular carcinoma Acute myeloid leukemia Pancreatic adenocarcinoma Adenocarcinoma of lung Colorectal Neoplasms Small cell lung cancer Li-Fraumeni syndrome 1
Reversed 1
HGVS NC_000017.10:g.7578190T>C; NC_000017.10:g.7578190T>G
CLNSRC UniProtKB (protein) OMIM Allelic Variant
CLNACC RCV000115731.6, RCV000213055.2, RCV000232050.2, RCV000417417.1, RCV000418951.1, RCV000423029.1, RCV000423111.1, RCV000423624.1, RCV000425193.1, RCV000425869.1, RCV000428097.1, RCV000428791.1, RCV000433936.1, RCV000434300.1, RCV000434614.1, RCV000435063.1, RCV000436553.1, RCV000439456.1, RCV000439645.1, RCV000440244.1, RCV000442230.1, RCV000444717.1, RCV000444814.1, RCV000013183.24, RCV000417473.1, RCV000418406.1, RCV000422874.1, RCV000423167.1, RCV000424238.1, RCV000425300.1, RCV000425801.1, RCV000428157.1, RCV000429097.1, RCV000430581.1, RCV000432708.1, RCV000433786.1, RCV000435597.1, RCV000436486.1, RCV000441285.1, RCV000441465.1, RCV000443214.1, RCV000444276.1, RCV000445060.1, RCV000472593.1,