CFTR c.1674A>T ;(p.L558F)

Variant ID: 7-117227882-A-T

NM_000492.3(CFTR):c.1674A>T;(p.L558F)

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:

Yield of clinically reportable genetic variants in unselected cerebral palsy by whole genome sequencing.

Npj Genomic Medicine
van Eyk, C L CL; Webber, D L DL; Minoche, A E AE; Pérez-Jurado, L A LA; Corbett, M A MA; Gardner, A E AE; Berry, J G JG; Harper, K K; MacLennan, A H AH; Gecz, J J
Publication Date: 2021-09-16

Variant appearance in text: CFTR: 1674A>T; L558F
PubMed Link: 34531397
Variant Present in the following documents:
  • 41525_2021_238_MOESM1_ESM.pdf
View BVdb publication page