CLN5 c.156C>A ;(p.H52Q)

Variant ID: 13-77566389-C-A

NM_006493.2(CLN5):c.156C>A;(p.H52Q)

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:

Systematic review of autosomal recessive ataxias and proposal for a classification.

Cerebellum & Ataxias
Beaudin, Marie M; Klein, Christopher J CJ; Rouleau, Guy A GA; Dupré, Nicolas N
Publication Date: 2017

Variant appearance in text: CLN5: His101Gln
PubMed Link: 28250961
Variant Present in the following documents:
  • 40673_2017_Article_61.pdf
View BVdb publication page