ClinVar
|
Risk
|
rs121913500(A;A) rs121913500(C;C) rs121913500(T;T) |
Alt
|
rs121913500(A;A) rs121913500(C;C) rs121913500(T;T) |
Reference
|
Rs121913500(G;G) |
Significance |
Pathogenic |
Disease |
Myelodysplastic syndrome Colorectal Neoplasms Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Adenocarcinoma of lung Neoplasm of brain Adenocarcinoma of prostate Multiple myeloma Neoplasm of breast Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma Glioblastoma multiforme Oligodendroglioma Astrocytoma |
Variation | info |
---|
Gene |
IDH1 |
CLNDBN |
Myelodysplastic syndrome Colorectal Neoplasms Acute myeloid leukemia Transitional cell carcinoma of the bladder Medulloblastoma Glioblastoma Malignant melanoma of skin Adenocarcinoma of lung Neoplasm of brain Adenocarcinoma of prostate Multiple myeloma Neoplasm of breast Brainstem glioma Hepatocellular carcinoma Adenoid cystic carcinoma Glioblastoma multiforme, somatic Oligodendroglioma Astrocytoma |
Reversed |
1 |
HGVS |
NC_000002.11:g.209113112C>A; NC_000002.11:g.209113112C>G; NC_000002.11:g.209113112C>T |
CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
CLNACC |
RCV000418043.1, RCV000423104.1, RCV000424309.1, RCV000424554.1, RCV000425224.1, RCV000425475.1, RCV000430835.1, RCV000432682.1, RCV000433285.1, RCV000433807.1, RCV000435256.1, RCV000440464.1, RCV000441571.1, RCV000442225.1, RCV000445003.1, RCV000437616.1, RCV000144504.3, RCV000419255.1, RCV000420454.1, RCV000421389.1, RCV000422344.1, RCV000423229.1, RCV000423408.1, RCV000427239.1, RCV000428884.1, RCV000429987.1, RCV000431117.1, RCV000432047.1, RCV000433068.1, RCV000439554.1, RCV000440637.1, RCV000441845.1, RCV000442517.1, RCV000445280.1, |