TSC2 c.1670T>A ;(p.L557*)

Variant ID: 16-2115590-T-A

NM_000548.3(TSC2):c.1670T>A;(p.L557*)

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:

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

The Journal Of Pathology. Clinical Research
Bah, Ismaël I; Fahiminiya, Somayyeh S; Bégin, Louis R LR; Hamel, Nancy N; D'Agostino, Maria D MD; Tanguay, Simon S; Foulkes, William D WD
Publication Date: 2018-07

Variant appearance in text: TSC2: L557X
PubMed Link: 29659200
Variant Present in the following documents:
  • Main text
  • CJP2-4-167.pdf
View BVdb publication page