Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Genetic Disorders, |
RCV000494692 | SCV000583405 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2017-02-28 | no assertion criteria provided | research | NM_001399.4:c.180C>A change in EDA is asociated with X-linked Ectodermal dysplasia 1 (Hypohydrotic, hair, tooth type OMIM# 305100) in an Indian family. Only males having this variation was affected none of the females having this variation was affected. This variation was not present in the 100 control individuals. This change is a nonsense mutation leading to termination of protein synthesis at 60th aminoacid (NP_001390.1 p.Cys60*). Clinical significance using online tool MutationTaster (http://www.mutationtaster.org/) and was predicted to be disease causing |