CP c.1989C>T ;(p.N663=)

Variant ID: 3-148904395-G-A

NM_000096.3(CP):c.1989C>T;(p.N663=)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The first missense mutation of NHS gene in a Tunisian family with clinical features of NHS syndrome including cardiac anomaly.

European Journal Of Human Genetics : Ejhg
Chograni, Manèl M; Rejeb, Imen I; Jemaa, Lamia Ben LB; Châabouni, Myriam M; Bouhamed, Habiba Chaabouni HC
Publication Date: 2011-08

Variant appearance in text: CP: 1989C>T
PubMed Link: 21559051
Variant Present in the following documents:
  • Main text
View BVdb publication page