CFTR c.3584A>C ;(p.N1195T)

Variant ID: 7-117267691-A-C

NM_000492.3(CFTR):c.3584A>C;(p.N1195T)

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:

Identification of 99% of CFTR gene mutations in Bulgarian-, Bulgarian Turk-, and Roma cystic fibrosis patients.

Molecular Genetics & Genomic Medicine
Petrova, Guergana G; Yaneva, Nadezhda N; Hrbková, Jana J; Libik, Malgorzata M; Savov, Alexey A; Macek, Milan M
Publication Date: 2019-08

Variant appearance in text: CFTR: 3584A>C; N1195T
PubMed Link: 31245908
Variant Present in the following documents:
  • Main text
  • MGG3-7-e696.pdf
View BVdb publication page