CFTR c.3542C>G ;(p.P1181R)

Variant ID: 7-117267649-C-G

NM_000492.3(CFTR):c.3542C>G;(p.P1181R)

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:

Genotype patterns for mutations of the cystic fibrosis transmembrane conductance regulator gene: a retrospective descriptive study from Saudi Arabia.

Annals Of Saudi Medicine
Banjar, Hanaa Hasan HH; Tuleimat, Lin L; El Seoudi, Abdul Aziz Agha AAA; Mogarri, Ibrahim I; Alhaider, Sami S; Nizami, Imran Yaqoob IY; AlMaghamsi, Talal T; Alkaf, Sara Andulrahman SA; Moghrabi, Nabil N
Publication Date: 2020

Variant appearance in text: CFTR: 3542C>G; P1181R
PubMed Link: 32026723
Variant Present in the following documents:
  • Main text
  • 0256-4947.2020.15.pdf
View BVdb publication page