CFTR c.745_803del ;(p.D249Yfs*5)

Variant ID: 7-117176602-GAGATCAGAGAGCTGGGAAGATCAGTGAAAGACTTGTGATTACCTCAGAAATGATTGAAA-G

NM_000492.3(CFTR):c.745_803del;(p.D249Yfs*5)

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:

Liver Failure in a Chinese Cystic Fibrosis Child With Homozygous R553X Mutation.

Frontiers In Pediatrics
Li, Haiyan H; Lin, Li L; Hu, Xiaoguang X; Li, Changchong C; Zhang, Hailin H
Publication Date: 2019

Variant appearance in text: CFTR: Arg248_Glu528delinsArg
PubMed Link: 30842938
Variant Present in the following documents:
  • Main text
  • fped-07-00036.pdf
View BVdb publication page


Differences in gene mutations between Chinese and Caucasian cystic fibrosis patients.

Pediatric Pulmonology
Zheng, Baoying B; Cao, Ling L
Publication Date: 2017-03

Variant appearance in text: CFTR: Arg248_Glu528delinsArg
PubMed Link: 27717243
Variant Present in the following documents:
  • Main text
  • PPUL-52-E11.pdf
View BVdb publication page