CFTR c.18G>C ;(p.L6=)

Variant ID: 7-117120166-G-C

NM_000492.3(CFTR):c.18G>C;(p.L6=)

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:

Synonymous codon usage affects the expression of wild type and F508del CFTR.

Journal Of Molecular Biology
Shah, Kalpit K; Cheng, Yi Y; Hahn, Brian B; Bridges, Robert R; Bradbury, Neil A NA; Mueller, David M DM
Publication Date: 2015-03-27

Variant appearance in text: CFTR: 18G>C
PubMed Link: 25676312
Variant Present in the following documents:
  • Main text
View BVdb publication page