TSC2 c.5127del ;(p.F1710Sfs*116)

Variant ID: 16-2138104-GC-G

NM_000548.3(TSC2):c.5127del;(p.F1710Sfs*116)

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:

Exonic mutations of TSC2/TSC1 are common but not seen in all sporadic pulmonary lymphangioleiomyomatosis.

American Journal Of Respiratory And Critical Care Medicine
Badri, Kameswara Rao KR; Gao, Ling L; Hyjek, Elizabeth E; Schuger, Noa N; Schuger, Lucia L; Qin, Wei W; Chekaluk, Yvonne Y; Kwiatkowski, David J DJ; Zhe, Xiaoning X
Publication Date: 2013-03-15

Variant appearance in text: TSC2: 5127delC
PubMed Link: 23504366
Variant Present in the following documents:
  • Main text
View BVdb publication page