TSC2 c.774G>A ;(p.K258=)

Variant ID: 16-2106770-G-A

NM_000548.3(TSC2):c.774G>A;(p.K258=)

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:

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Molecular Neurobiology
Zhang, Yi Y; Wang, Tao T; Wang, Yan Y; Xia, Kun K; Li, Jinchen J; Sun, Zhongsheng Z
Publication Date: 2021-08

Variant appearance in text: TSC2: 774G>A; K258K
PubMed Link: 33860439
Variant Present in the following documents:
  • 12035_2021_2377_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page