CFTR c.52_53delinsTA ;(p.S18Y)

Variant ID: 7-117120200-AG-TA

NM_000492.3(CFTR):c.52_53delinsTA;(p.S18Y)

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:

Ubiquitin/proteasome pathway impairment in neurodegeneration: therapeutic implications.

Apoptosis : An International Journal On Programmed Cell Death
Huang, Qian Q; Figueiredo-Pereira, Maria E ME
Publication Date: 2010-11

Variant appearance in text: CFTR: S18Y
PubMed Link: 20131003
Variant Present in the following documents:
  • Main text
View BVdb publication page