CFTR c.267T>C ;(p.Y89=)

Variant ID: 7-117149190-T-C

NM_000492.3(CFTR):c.267T>C;(p.Y89=)

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:

High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

Bmc Medical Genetics
Santos, Susana S; Marques, Vanda V; Pires, Marina M; Silveira, Leonor L; Oliveira, Helena H; Lança, Vasco V; Brito, Dulce D; Madeira, Hugo H; Esteves, J Fonseca JF; Freitas, António A; Carreira, Isabel M IM; Gaspar, Isabel M IM; Monteiro, Carolino C; Fernandes, Alexandra R AR
Publication Date: 2012-03-19

Variant appearance in text: CFTR: 267T>C
PubMed Link: 22429680
Variant Present in the following documents:
  • Main text
  • 1471-2350-13-17.pdf
View BVdb publication page