| ClinVar
|
| Risk
|
rs121913502(A;A) rs121913502(T;T) |
| Alt
|
rs121913502(A;A) rs121913502(T;T) |
| Reference
|
Rs121913502(G;G) |
| Significance |
Pathogenic |
| Disease |
Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Colorectal Neoplasms D-2-hydroxyglutaric aciduria 2 not provided |
| Variation | info |
|---|
| Gene |
IDH2 |
| CLNDBN |
Myelodysplastic syndrome Acute myeloid leukemia Squamous cell carcinoma of the head and neck Multiple myeloma Colorectal Neoplasms D-2-hydroxyglutaric aciduria 2 not provided |
| Reversed |
1 |
| HGVS |
NC_000015.9:g.90631934C>A; NC_000015.9:g.90631934C>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000419881.1, RCV000424921.1, RCV000426646.1, RCV000435643.1, RCV000436884.1, RCV000015831.26, RCV000292094.1, RCV000419192.1, RCV000420290.1, RCV000430530.1, RCV000431189.1, RCV000441454.1, |