CFTR c.743+248G>A

Variant ID: 7-117175713-G-A

NM_000492.3(CFTR):c.743+248G>A

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:

The CFTR gene variants in Japanese children with idiopathic pancreatitis.

Human Genome Variation
Iso, Manami M; Suzuki, Mitsuyoshi M; Yanagi, Kumiko K; Minowa, Kei K; Sakurai, Yumiko Y; Nakano, Satoshi S; Satou, Kazuhito K; Shimizu, Toshiaki T; Kaname, Tadashi T
Publication Date: 2019

Variant appearance in text: rs547233512
PubMed Link: 30992994
Variant Present in the following documents:
  • Main text
  • 41439_2019_Article_49.pdf
View BVdb publication page