TSC2 c.3364del ;(p.R1122Vfs*69)

Variant ID: 16-2129634-TC-T

NM_000548.3(TSC2):c.3364del;(p.R1122Vfs*69)

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:

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Human Genomics
Lim, Eileen C P EC; Brett, Maggie M; Lai, Angeline H M AH; Lee, Siew-Peng SP; Tan, Ee-Shien ES; Jamuar, Saumya S SS; Ng, Ivy S L IS; Tan, Ene-Choo EC
Publication Date: 2015-12-14

Variant appearance in text: TSC2: 3364delC
PubMed Link: 26666243
Variant Present in the following documents:
  • Main text
View BVdb publication page