APC c.3721G>C ;(p.G1241R)

Variant ID: 5-112175012-G-C

NM_000038.5(APC):c.3721G>C;(p.G1241R)

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:

4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.

Iscience
Tominaga, Kana K; Tominaga, Naoomi N; Williams, Eric O EO; Rufibach, Laura L; Schöwel, Verena V; Spuler, Simone S; Viswanathan, Mohan M; Guarente, Leonard P LP
Publication Date: 2022-01-21

Variant appearance in text: APC: G1241R
PubMed Link: 35028538
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page