CFTR c.1973_1985delinsA ;(p.R658_L662delinsK)

Variant ID: 7-117232194-GAAATTCAATCCT-A

NM_000492.3(CFTR):c.1973_1985delinsA;(p.R658_L662delinsK)

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:

Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis.

Journal Of Inborn Errors Of Metabolism And Screening
Hendrix, Miyono M MM; Foster, Stephanie L SL; Cordovado, Suzanne K SK
Publication Date: 2016

Variant appearance in text: CFTR: 1973_1985del13insA
PubMed Link: 28261631
Variant Present in the following documents:
  • Main text
  • nihms822513.pdf
View BVdb publication page