| ClinVar
|
| Risk
|
rs121918465(C;C) rs121918465(G;G) rs121918465(T;T) |
| Alt
|
rs121918465(C;C) rs121918465(G;G) rs121918465(T;T) |
| Reference
|
Rs121918465(A;A) |
| Significance |
Pathogenic |
| Disease |
Juvenile myelomonocytic leukemia not provided Astrocytoma Neuroblastoma Colorectal Neoplasms Squamous cell carcinoma of lung Multiple myeloma |
| Variation | info |
|---|
| Gene |
PTPN11 |
| CLNDBN |
Juvenile myelomonocytic leukemia not provided Astrocytoma Neuroblastoma Colorectal Neoplasms Squamous cell carcinoma of lung Multiple myeloma |
| Reversed |
0 |
| HGVS |
NC_000012.11:g.112888211A>C; NC_000012.11:g.112888211A>G; NC_000012.11:g.112888211A>T |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014267.5, RCV000033477.5, RCV000424761.1, RCV000424995.1, RCV000432192.1, RCV000443046.1, RCV000444034.1, RCV000014266.8, RCV000159046.2, RCV000419574.1, RCV000420699.1, RCV000427060.1, RCV000437713.1, RCV000437931.1, RCV000014265.5, |