TSC2 c.1430G>A ;(p.R477K)

Variant ID: 16-2113041-G-A

NM_000548.3(TSC2):c.1430G>A;(p.R477K)

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:

New gain-of-function mutation shows CACNA1D as recurrently mutated gene in autism spectrum disorders and epilepsy.

Human Molecular Genetics
Pinggera, Alexandra A; Mackenroth, Luisa L; Rump, Andreas A; Schallner, Jens J; Beleggia, Filippo F; Wollnik, Bernd B; Striessnig, Jörg J
Publication Date: 2017-08-01

Variant appearance in text: TSC2: 1430G>A; R477H
PubMed Link: 28472301
Variant Present in the following documents:
  • Main text
  • ddx175.pdf
View BVdb publication page