CFTR c.269T>C ;(p.L90S)

Variant ID: 7-117149192-T-C

NM_000492.3(CFTR):c.269T>C;(p.L90S)

This variant was identified in 2 publications

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: CFTR: 269T>C
PubMed Link: 31589614
Variant Present in the following documents:
  • Main text
  • pgen.1008409.s004.xlsx, sheet 1
View BVdb publication page