CFTR c.341A>C ;(p.K114T)

Variant ID: 7-117171020-A-C

NM_000492.3(CFTR):c.341A>C;(p.K114T)

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:

Spectrum of CFTR gene mutations in Ecuadorian cystic fibrosis patients: the second report of the p.H609R mutation.

Molecular Genetics & Genomic Medicine
Ortiz, Sofía C SC; Aguirre, Santiago J SJ; Flores, Sofía S; Maldonado, Claudio C; Mejía, Juan J; Salinas, Lilian L
Publication Date: 2017-11

Variant appearance in text: CFTR: K114T
PubMed Link: 29178639
Variant Present in the following documents:
  • Main text
  • MGG3-5-751.pdf
View BVdb publication page