CFTR c.495A>C ;(p.L165F)

Variant ID: 7-117174335-A-C

NM_000492.3(CFTR):c.495A>C;(p.L165F)

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:

Most mutations that cause spinocerebellar ataxia autosomal recessive type 16 (SCAR16) destabilize the protein quality-control E3 ligase CHIP.

The Journal Of Biological Chemistry
Kanack, Adam J AJ; Newsom, Oliver J OJ; Scaglione, Kenneth Matthew KM
Publication Date: 2018-02-23

Variant appearance in text: CFTR: L165F
PubMed Link: 29317501
Variant Present in the following documents:
  • Main text
View BVdb publication page