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, |