SMARCA4 c.1540G>C ;(p.E514Q)

Variant ID: 19-11105624-G-C

NM_003072.3(SMARCA4):c.1540G>C;(p.E514Q)

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:

The Pathogenesis of Port Wine Stain and Sturge Weber Syndrome: Complex Interactions between Genetic Alterations and Aberrant MAPK and PI3K Activation.

International Journal Of Molecular Sciences
Nguyen, Vi V; Hochman, Marcelo M; Mihm, Martin C MC; Nelson, J Stuart JS; Tan, Wenbin W
Publication Date: 2019-05-07

Variant appearance in text: SMARCA4: E514Q
PubMed Link: 31067686
Variant Present in the following documents:
  • Main text
  • ijms-20-02243.pdf
View BVdb publication page