ATP9B c.617A>T ;(p.Q206L)

Variant ID: 18-76886325-A-T

NM_198531.3(ATP9B):c.617A>T;(p.Q206L)

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:

A family with atypical Hailey Hailey disease--is there more to the underlying genetics than ATP2C1?

Plos One
van Beek, Nina N; Patsatsi, Aikaterini A; Gupta, Yask Y; Möller, Steffen S; Freitag, Miriam M; Lemcke, Susanne S; Recke, Andreas A; Zillikens, Detlef D; Schmidt, Enno E; Ibrahim, Saleh S
Publication Date: 2015

Variant appearance in text: ATP9B: Q206L; rs138177421
PubMed Link: 25837627
Variant Present in the following documents:
  • Main text
  • pone.0121253.pdf
View BVdb publication page