CFTR c.1502C>T ;(p.T501I)

Variant ID: 7-117199627-C-T

NM_000492.3(CFTR):c.1502C>T;(p.T501I)

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:

Targeting Alternative Splicing as a Potential Therapy for Episodic Ataxia Type 2.

Biomedicines
Jaudon, Fanny F; Baldassari, Simona S; Musante, Ilaria I; Thalhammer, Agnes A; Zara, Federico F; Cingolani, Lorenzo A LA
Publication Date: 2020-09-05

Variant appearance in text: CFTR: 1502C>T; Thr501Met
PubMed Link: 32899500
Variant Present in the following documents:
  • Main text
  • biomedicines-08-00332.pdf
View BVdb publication page