CFTR c.1331_1337del ;(p.I444Tfs*3)

Variant ID: 7-117188816-ATTAATTT-A

NM_000492.3(CFTR):c.1331_1337del;(p.I444Tfs*3)

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:

22q and two: 22q11.2 deletion syndrome and coexisting conditions.

American Journal Of Medical Genetics. Part A
Cohen, Jennifer L JL; Crowley, Terrence B TB; McGinn, Daniel E DE; McDougall, Carey C; Unolt, Marta M; Lambert, Michele P MP; Emanuel, Beverly S BS; Zackai, Elaine H EH; McDonald-McGinn, Donna M DM
Publication Date: 2018-10

Variant appearance in text: CFTR: Ile444fs*3
PubMed Link: 30244528
Variant Present in the following documents:
  • Main text
View BVdb publication page