Geno
|
Mag
|
Summary
|
(C;C)
|
0
|
common in clinvar
|
aka c.394C>T, p.Arg132Cys and R132C
IDH1 variants are sometimes observed as somatic mutations in some glioblastomas [PMID 18772396]
ClinVar
|
Risk
|
rs121913499(A;A) rs121913499(G;G) rs121913499(T;T) |
Alt
|
rs121913499(A;A) rs121913499(G;G) rs121913499(T;T) |
Reference
|
Rs121913499(C;C) |
Significance |
Pathogenic |
Disease |
Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia |
Variation | info |
---|
Gene |
IDH1 |
CLNDBN |
Neoplasm of brain Adenocarcinoma of lung Neoplasm of breast Astrocytoma Hepatocellular carcinoma Medulloblastoma Multiple myeloma Malignant melanoma of skin Transitional cell carcinoma of the bladder Adenoid cystic carcinoma Colorectal Neoplasms Adenocarcinoma of prostate Brainstem glioma Glioblastoma Myelodysplastic syndrome Acute myeloid leukemia |
Reversed |
1 |
HGVS |
NC_000002.11:g.209113113G>A; NC_000002.11:g.209113113G>C; NC_000002.11:g.209113113G>T |
CLNSRC |
|
CLNACC |
RCV000418601.1, RCV000419656.1, RCV000420988.1, RCV000421691.1, RCV000426141.1, RCV000428207.1, RCV000429279.1, RCV000430360.1, RCV000434107.1, RCV000435816.1, RCV000436904.1, RCV000437909.1, RCV000438918.1, RCV000439965.1, RCV000441917.1, RCV000445302.1, RCV000417625.1, RCV000418685.1, RCV000419742.1, RCV000424071.1, RCV000425039.1, RCV000427476.1, RCV000427882.1, RCV000428941.1, RCV000434778.1, RCV000435299.1, RCV000436387.1, RCV000437708.1, RCV000440922.1, RCV000442058.1, RCV000444712.1, RCV000418324.1, RCV000423616.1, RCV000424342.1, RCV000424724.1, RCV000425839.1, RCV000426812.1, RCV000430064.1, RCV000431514.1, RCV000432144.1, RCV000434628.1, RCV000435988.1, RCV000437066.1, RCV000440287.1, RCV000441330.1, RCV000442342.1, RCV000445051.1, |