TSC2 c.763C>T ;(p.P255S)

Variant ID: 16-2106759-C-T

NM_000548.3(TSC2):c.763C>T;(p.P255S)

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:

High-throughput sequencing of mGluR signaling pathway genes reveals enrichment of rare variants in autism.

Plos One
Kelleher, Raymond J RJ; Geigenmüller, Ute U; Hovhannisyan, Hayk H; Trautman, Edwin E; Pinard, Robert R; Rathmell, Barbara B; Carpenter, Randall R; Margulies, David D
Publication Date: 2012

Variant appearance in text: TSC2: 763C>T
PubMed Link: 22558107
Variant Present in the following documents:
  • Main text
View BVdb publication page