TSC2 c.2295del ;(p.V766Wfs*5)

Variant ID: 16-2122922-GC-G

NM_000548.3(TSC2):c.2295del;(p.V766Wfs*5)

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:

Fetal cardiac rhabdomyoma due to paternal mosaicism of TSC2: A case report.

Medicine
Chen, Lin L; Jiang, Yu Y; Wang, Jing J
Publication Date: 2020-08-28

Variant appearance in text: TSC2: 2294delC; Val766Trpfs
PubMed Link: 32871942
Variant Present in the following documents:
  • Main text
  • medi-99-e21949.pdf
View BVdb publication page