CFTR c.4292T>C ;(p.L1431P)

Variant ID: 7-117307011-T-C

NM_000492.3(CFTR):c.4292T>C;(p.L1431P)

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:

Dysferlin-peptides reallocate mutated dysferlin thereby restoring function.

Plos One
Schoewel, Verena V; Marg, Andreas A; Kunz, Severine S; Overkamp, Tim T; Carrazedo, Romy Siegert RS; Zacharias, Ute U; Daniel, Peter T PT; Spuler, Simone S
Publication Date: 2012

Variant appearance in text: CFTR: L1431P
PubMed Link: 23185377
Variant Present in the following documents:
  • Main text
  • pone.0049603.pdf
View BVdb publication page