Individual ID | 27151912.01 |
---|---|
Pubmed ID | 27151912 |
Whose mosaic mutation | Female Patient |
Origin of mosaic mutation in patients | de novo |
Phenotypic Category | 3 |
Age | 18.0 ~ 18.0 |
Disease | Ectrodactyly ectodermal dysplasia clefting syndrome(view all the variants in this disease) |
OMIM ID | 604292 |
Found 1 variant in this database.
Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
---|---|---|---|---|---|---|---|
700 | 8626 | p63 | 3 | 189586425 | 189586425 | Ectrodactyly ectodermal dysplasia clefting syndrome | Sanger |