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rs121912651

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 pathogenic/causal mutation for Li-Fraumeni syndrome
Make rs121912651(T;T)
ReferenceGRCh38 38.1/141
Chromosome17
Position7674221
GeneTP53
is asnp
is mentioned by
dbSNPrs121912651
ClinGenrs121912651
ebirs121912651
HLIrs121912651
Exacrs121912651
Varsomers121912651
Maprs121912651
PheGenIrs121912651
hapmaprs121912651
1000 genomesrs121912651
hgdprs121912651
ensemblrs121912651
gopubmedrs121912651
geneviewrs121912651
scholarrs121912651
googlers121912651
pharmgkbrs121912651
gwascentralrs121912651
openSNPrs121912651
23andMers121912651
23andMe allrs121912651
SNP Nexus

SNPshotrs121912651
SNPdbers121912651
MSV3drs121912651
GWAS Ctlgrs121912651
Max Magnitude6
OMIM191170
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912651(G;G) rs121912651(T;T)
Alt rs121912651(G;G) rs121912651(T;T)
Reference Rs121912651(C;C)
Significance Other
Disease Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Small cell lung cancer Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Brainstem glioma Ovarian Serous Cystadenocarcinoma Myelodysplastic syndrome Adenocarcinoma of prostate Neoplasm of breast Oesophageal carcinoma Adenocarcinoma of stomach Multiple myeloma Uterine Carcinosarcoma Neoplasm of brain Squamous cell carcinoma of lung Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm Colorectal Neoplasms Medulloblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Pancreatic adenocarcinoma
Variation info
Gene TP53
CLNDBN Li-Fraumeni syndrome 1 Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome not provided Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Small cell lung cancer Squamous cell carcinoma of the head and neck Chronic lymphocytic leukemia Brainstem glioma Ovarian Serous Cystadenocarcinoma Myelodysplastic syndrome Adenocarcinoma of prostate Neoplasm of breast Oesophageal carcinoma Adenocarcinoma of stomach Multiple myeloma Uterine Carcinosarcoma Neoplasm of brain Squamous cell carcinoma of lung Hepatocellular carcinoma Transitional cell carcinoma of the bladder Neoplasm Colorectal Neoplasms Medulloblastoma Malignant neoplasm of body of uterus Squamous cell carcinoma of the skin Malignant melanoma of skin Pancreatic adenocarcinoma
Reversed 1
HGVS NC_000017.10:g.7577539G>A; NC_000017.10:g.7577539G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000013140.23, RCV000115735.6, RCV000168242.5, RCV000213057.2, RCV000418495.1, RCV000419032.1, RCV000419150.1, RCV000419857.1, RCV000423184.1, RCV000423804.1, RCV000424308.1, RCV000424415.1, RCV000425083.1, RCV000425682.1, RCV000429777.1, RCV000429884.1, RCV000430543.1, RCV000431508.1, RCV000431689.1, RCV000433905.1, RCV000434504.1, RCV000435803.1, RCV000436398.1, RCV000438698.1, RCV000440422.1, RCV000440560.1, RCV000441091.1, RCV000441557.1, RCV000442243.1, RCV000444845.1, RCV000417693.1, RCV000418362.1, RCV000420498.1, RCV000422668.1, RCV000423297.1, RCV000424776.1, RCV000425100.1, RCV000425394.1, RCV000425782.1, RCV000427544.1, RCV000427948.1, RCV000430735.1, RCV000432207.1, RCV000432931.1, RCV000433611.1, RCV000435050.1, RCV000435353.1, RCV000436038.1, RCV000437882.1, RCV000440334.1, RCV000441010.1, RCV000441711.1, RCV000444356.1, RCV000444427.1, RCV000444519.1,