| ClinVar
|
| Risk
|
rs79184941(G;G) rs79184941(T;T) |
| Alt
|
rs79184941(G;G) rs79184941(T;T) |
| Reference
|
Rs79184941(C;C) |
| Significance |
Pathogenic |
| Disease |
Acrocephalosyndactyly type I Endometrial carcinoma not provided Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma Uterine Carcinosarcoma Acrocephalosyndactyly Endometrial neoplasm Adenocarcinoma of stomach |
| Variation | info |
|---|
| Gene |
FGFR2 |
| CLNDBN |
Acrocephalosyndactyly type I Endometrial carcinoma not provided Malignant neoplasm of body of uterus Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation Uterine Carcinosarcoma Acrocephalosyndactyly Endometrial neoplasm Adenocarcinoma of stomach |
| Reversed |
1 |
| HGVS |
NC_000010.10:g.123279677G>C |
| CLNSRC |
OMIM Allelic Variant UniProtKB (protein) |
| CLNACC |
RCV000014191.24, RCV000014192.4, RCV000263144.1, RCV000422979.1, RCV000431027.1, RCV000433250.1, RCV000433942.1, RCV000438603.1, RCV000440715.1, |