TSC2 c.4750del ;(p.L1584*)

Variant ID: 16-2136281-GC-G

NM_000548.3(TSC2):c.4750del;(p.L1584*)

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:

Angiomyolipoma have common mutations in TSC2 but no other common genetic events.

Plos One
Qin, Wei W; Bajaj, Vineeta V; Malinowska, Izabela I; Lu, Xin X; MacConaill, Laura L; Wu, Chin-Lee CL; Kwiatkowski, David J DJ
Publication Date: 2011

Variant appearance in text: TSC2: 4750delC
PubMed Link: 21949787
Variant Present in the following documents:
  • Main text
  • pone.0024919.pdf
View BVdb publication page