GOLGA6A c.815A>G ;(p.E272G)

Variant ID: 15-74367776-T-C

NM_001038640.2(GOLGA6A):c.815A>G;(p.E272G)

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:

RAF1 deficiency causes a lethal syndrome that underscores RTK signaling during embryogenesis.

Embo Molecular Medicine
Wong, Samantha S; Tan, Yu Xuan YX; Loh, Abigail Yi Ting AYT; Tan, Kiat Yi KY; Lee, Hane H; Aziz, Zainab Z; Nelson, Stanley F SF; Özkan, Engin E; Kayserili, Hülya H; Escande-Beillard, Nathalie N; Reversade, Bruno B
Publication Date: 2023-04-17

Variant appearance in text: GOLGA6: 815A>G
PubMed Link: 37066513
Variant Present in the following documents:
  • EMMM-15-e17078-s005.xlsx, sheet 4
View BVdb publication page