CFTR c.486G>T ;(p.K162N)

Variant ID: 7-117171165-G-T

NM_000492.3(CFTR):c.486G>T;(p.K162N)

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:

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Human Mutation
Teich, Niels N; Rosendahl, Jonas J; Tóth, Miklós M; Mössner, Joachim J; Sahin-Tóth, Miklós M
Publication Date: 2006-08

Variant appearance in text: CFTR: 486G>T
PubMed Link: 16791840
Variant Present in the following documents:
  • Main text
View BVdb publication page