CFTR c.1A>T ;(p.M1?)

Variant ID: 7-117120149-A-T

NM_000492.3(CFTR):c.1A>T;(p.M1?)

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:

Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.

The Journal Of Molecular Diagnostics : Jmd
Ogino, Shuji S; Gulley, Margaret L ML; den Dunnen, Johan T JT; Wilson, Robert B RB; ,
Publication Date: 2007-02

Variant appearance in text: CFTR: 1A>T; Met1Leu
PubMed Link: 17251329
Variant Present in the following documents:
  • Main text
View BVdb publication page