SMARCA4 c.3187T>G ;(p.L1063V)

Variant ID: 19-11136994-T-G

NM_003072.3(SMARCA4):c.3187T>G;(p.L1063V)

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:

SWI/SNF-deficient undifferentiated/rhabdoid carcinoma of the gallbladder carrying a POLE mutation in a 30-year-old woman: a case report.

Diagnostic Pathology
Gerber, Tiemo S TS; Agaimy, Abbas A; Hartmann, Arndt A; Habekost, Michael M; Roth, Wilfried W; Stenzinger, Albrecht A; Schirmacher, Peter P; Straub, Beate K BK
Publication Date: 2021-06-12

Variant appearance in text: SMARCA4: Leu1063Val
PubMed Link: 34118935
Variant Present in the following documents:
  • Main text
  • 13000_2021_Article_1112.pdf
View BVdb publication page