CFTR c.199C>A ;(p.P67T)

Variant ID: 7-117149122-C-A

NM_000492.3(CFTR):c.199C>A;(p.P67T)

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:

Interaction with polyglutamine-expanded huntingtin alters cellular distribution and RNA processing of huntingtin yeast two-hybrid protein A (HYPA).

The Journal Of Biological Chemistry
Jiang, Ya-Jun YJ; Che, Mei-Xia MX; Yuan, Jin-Qiao JQ; Xie, Yuan-Yuan YY; Yan, Xian-Zhong XZ; Hu, Hong-Yu HY
Publication Date: 2011-07-15

Variant appearance in text: CFTR: P67T
PubMed Link: 21566141
Variant Present in the following documents:
  • Main text
View BVdb publication page