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rs121912657

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
Make rs121912657(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7673806
GeneTP53
is asnp
is mentioned by
dbSNPrs121912657
dbSNP (old)rs121912657
ClinGenrs121912657
ebirs121912657
HLIrs121912657
Exacrs121912657
Gnomadrs121912657
Varsomers121912657
Maprs121912657
PheGenIrs121912657
Biobankrs121912657
1000 genomesrs121912657
hgdprs121912657
ensemblrs121912657
gopubmedrs121912657
geneviewrs121912657
scholarrs121912657
googlers121912657
pharmgkbrs121912657
gwascentralrs121912657
openSNPrs121912657
23andMers121912657
23andMe allrs121912657
SNP Nexus

SNPshotrs121912657
SNPdbers121912657
MSV3drs121912657
GWAS Ctlgrs121912657
Max Magnitude6
OMIM191170
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121912657(A;A) rs121912657(T;T)
Alt rs121912657(A;A) rs121912657(T;T)
Reference Rs121912657(G;G)
Significance Pathogenic
Disease Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adenocarcinoma of stomach Neoplasm of breast Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Pancreatic adenocarcinoma Renal cell carcinoma Medulloblastoma Adenocarcinoma of lung Malignant neoplasm of body of uterus Multiple myeloma Li-Fraumeni syndrome
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Adenocarcinoma of stomach Neoplasm of breast Squamous cell carcinoma of the head and neck Squamous cell carcinoma of the skin Transitional cell carcinoma of the bladder Colorectal Neoplasms Ovarian Serous Cystadenocarcinoma Pancreatic adenocarcinoma Renal cell carcinoma Medulloblastoma Adenocarcinoma of lung Malignant neoplasm of body of uterus Multiple myeloma Li-Fraumeni syndrome
Reversed 1
HGVS NC_000017.10:g.7577124C>A; NC_000017.10:g.7577124C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013152.22, RCV000164988.1, RCV000417682.1, RCV000420507.1, RCV000426429.1, RCV000427077.1, RCV000428361.1, RCV000431193.1, RCV000432989.1, RCV000434905.1, RCV000437100.1, RCV000437706.1, RCV000439021.1, RCV000443570.1, RCV000443589.1, RCV000165304.2, RCV000418746.1, RCV000424351.1, RCV000424542.1, RCV000425268.1, RCV000426406.1, RCV000432177.1, RCV000434295.1, RCV000434621.1, RCV000436402.1, RCV000436602.1, RCV000441086.1, RCV000443052.1, RCV000443071.1, RCV000457645.1,