CFTR c.3581A>C ;(p.E1194A)

Variant ID: 7-117267688-A-C

NM_000492.3(CFTR):c.3581A>C;(p.E1194A)

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:

A haplotype framework for cystic fibrosis mutations in Iran.

The Journal Of Molecular Diagnostics : Jmd
Elahi, Elahe E; Khodadad, Ahmad A; Kupershmidt, Ilya I; Ghasemi, Fereshteh F; Alinasab, Babak B; Naghizadeh, Ramin R; Eason, Robert G RG; Amini, Mahshid M; Esmaili, Mehran M; Esmaeili Dooki, Mohammad R MR; Sanati, Mohammad H MH; Davis, Ronald W RW; Ronaghi, Mostafa M; Thorstenson, Yvonne R YR
Publication Date: 2006-02

Variant appearance in text: CFTR: E1194A
PubMed Link: 16436643
Variant Present in the following documents:
  • Main text
View BVdb publication page