ClinVar
|
Risk
|
rs1057519884(A;A) rs1057519884(T;T) |
Alt
|
rs1057519884(A;A) rs1057519884(T;T) |
Reference
|
Rs1057519884(G;G) |
Significance |
Probable-Pathogenic |
Disease |
Uterine cervical neoplasms Transitional cell carcinoma of the bladder Medulloblastoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Colorectal Neoplasms Adenocarcinoma of stomach Hepatocellular carcinoma Squamous cell carcinoma of lung Glioblastoma Malignant melanoma of skin |
Variation | info |
---|
Gene |
CREBBP |
CLNDBN |
Uterine cervical neoplasms Transitional cell carcinoma of the bladder Medulloblastoma Adenoid cystic carcinoma Squamous cell carcinoma of the head and neck Colorectal Neoplasms Adenocarcinoma of stomach Hepatocellular carcinoma Squamous cell carcinoma of lung Glioblastoma Malignant melanoma of skin |
Reversed |
1 |
HGVS |
NC_000016.9:g.3788617C>A; NC_000016.9:g.3788617C>T |
CLNSRC |
|
CLNACC |
RCV000417475.1, RCV000418109.1, RCV000422899.1, RCV000423976.1, RCV000428142.1, RCV000430512.1, RCV000434630.1, RCV000436449.1, RCV000438833.1, RCV000440084.1, RCV000441248.1, RCV000420453.1, RCV000424559.1, RCV000425211.1, RCV000425657.1, RCV000432858.1, RCV000433580.1, RCV000435262.1, RCV000437565.1, RCV000441892.1, RCV000441923.1, RCV000443540.1, |