CFTR c.1519_1524del ;(p.I507_F508del)

Variant ID: 7-117199644-CATCTTT-C

NM_000492.3(CFTR):c.1519_1524del;(p.I507_F508del)

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:

Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite population.

Molecular Genetics & Genomic Medicine
Triggs-Raine, Barbara B; Dyck, Tamara T; Boycott, Kym M KM; Innes, A Micheil AM; Ober, Carole C; Parboosingh, Jillian S JS; Botkin, Alexis A; Greenberg, Cheryl R CR; Spriggs, Elizabeth L EL
Publication Date: 2016-05

Variant appearance in text: CFTR: I507_F508del
PubMed Link: 27247959
Variant Present in the following documents:
  • Main text
  • MGG3-4-312.pdf
View BVdb publication page