ClinVar
|
Risk
|
rs121912660(A;A) rs121912660(C;C) rs121912660(T;T) |
Alt
|
rs121912660(A;A) rs121912660(C;C) rs121912660(T;T) |
Reference
|
Rs121912660(G;G) |
Significance |
Pathogenic |
Disease |
Malignant tumor of prostate Malignant melanoma of skin Ovarian Serous Cystadenocarcinoma Acute myeloid leukemia Transitional cell carcinoma of the bladder Hepatocellular carcinoma Small cell lung cancer Uterine cervical neoplasms Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Oesophageal carcinoma Nasopharyngeal Neoplasms Adenocarcinoma of lung Squamous cell carcinoma of the skin Neoplasm of breast Squamous cell carcinoma of the head and neck Uterine Carcinosarcoma Nasopharyngeal carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Malignant tumor of prostate Malignant melanoma of skin Ovarian Serous Cystadenocarcinoma Acute myeloid leukemia Transitional cell carcinoma of the bladder Hepatocellular carcinoma Small cell lung cancer Uterine cervical neoplasms Neoplasm of brain Adenocarcinoma of stomach Squamous cell carcinoma of lung Oesophageal carcinoma Nasopharyngeal Neoplasms Adenocarcinoma of lung Squamous cell carcinoma of the skin Neoplasm of breast Squamous cell carcinoma of the head and neck Uterine Carcinosarcoma Nasopharyngeal carcinoma Li-Fraumeni syndrome Hereditary cancer-predisposing syndrome |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577099C>A; NC_000017.10:g.7577099C>G; NC_000017.10:g.7577099C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000149052.1, RCV000417523.1, RCV000419067.1, RCV000419744.1, RCV000421544.1, RCV000425612.1, RCV000426315.1, RCV000427666.1, RCV000428657.1, RCV000429336.1, RCV000434213.1, RCV000434436.1, RCV000435871.1, RCV000437418.1, RCV000438665.1, RCV000438915.1, RCV000442289.1, RCV000445006.1, RCV000013167.4, RCV000198779.1, RCV000418209.1, RCV000420086.1, RCV000422446.1, RCV000422958.1, RCV000423074.1, RCV000424688.1, RCV000428404.1, RCV000429718.1, RCV000431210.1, RCV000432461.1, RCV000432716.1, RCV000434981.1, RCV000437764.1, RCV000440816.1, RCV000441513.1, RCV000441912.1, RCV000445307.1, RCV000418023.1, RCV000423448.1, RCV000423739.1, RCV000423933.1, RCV000425366.1, RCV000428734.1, RCV000428952.1, RCV000431165.1, RCV000433592.1, RCV000433708.1, RCV000436148.1, RCV000436528.1, RCV000438568.1, RCV000440980.1, RCV000442077.1, RCV000444610.1, RCV000444685.1, RCV000492483.1, |