ClinVar
|
Risk
|
rs121913343(A;A) rs121913343(T;T) |
Alt
|
rs121913343(A;A) rs121913343(T;T) |
Reference
|
Rs121913343(C;C) |
Significance |
Other |
Disease |
Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of prostate Li-Fraumeni syndrome not provided Neoplasm of breast Neoplasm Hepatocellular carcinoma Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Ovarian Serous Cystadenocarcinoma Chronic lymphocytic leukemia Malignant neoplasm of body of uterus Neoplasm of brain Medulloblastoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Small cell lung cancer Oesophageal carcinoma Multiple myeloma Adrenocortical carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach Uterine Carcinosarcoma Transitional cell carcinoma of the bladder |
Variation | info |
---|
Gene |
TP53 |
CLNDBN |
Hereditary cancer-predisposing syndrome Li-Fraumeni syndrome 1 Malignant tumor of prostate Li-Fraumeni syndrome not provided Neoplasm of breast Neoplasm Hepatocellular carcinoma Acute myeloid leukemia Adenocarcinoma of lung Glioblastoma Ovarian Serous Cystadenocarcinoma Chronic lymphocytic leukemia Malignant neoplasm of body of uterus Neoplasm of brain Medulloblastoma Malignant melanoma of skin Brainstem glioma Squamous cell carcinoma of the head and neck Small cell lung cancer Oesophageal carcinoma Multiple myeloma Adrenocortical carcinoma Adenocarcinoma of prostate Pancreatic adenocarcinoma Squamous cell carcinoma of lung Colorectal Neoplasms Adenocarcinoma of stomach Uterine Carcinosarcoma Transitional cell carcinoma of the bladder |
Reversed |
1 |
HGVS |
NC_000017.10:g.7577121G>A; NC_000017.10:g.7577121G>T |
CLNSRC |
UniProtKB (protein) |
CLNACC |
RCV000131966.5, RCV000144665.4, RCV000149051.1, RCV000205625.1, RCV000254692.1, RCV000421090.1, RCV000431786.1, RCV000432002.1, RCV000442470.1, RCV000418085.1, RCV000420280.1, RCV000420482.1, RCV000422550.1, RCV000422795.1, RCV000424918.1, RCV000425669.1, RCV000427515.1, RCV000427884.1, RCV000430119.1, RCV000431180.1, RCV000431455.1, RCV000432372.1, RCV000433489.1, RCV000435074.1, RCV000435480.1, RCV000436543.1, RCV000438218.1, RCV000439774.1, RCV000440794.1, RCV000440997.1, RCV000444595.1, RCV000445287.1, RCV000445314.1, |