TBL2 c.490T>G ;(p.F164V)

Variant ID: 7-72987758-A-C

NM_012453.2(TBL2):c.490T>G;(p.F164V)

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:

Exome sequencing of 85 Williams-Beuren syndrome cases rules out coding variation as a major contributor to remaining variance in social behavior.

Molecular Genetics & Genomic Medicine
Kopp, Nathan D ND; Parrish, Phoebe C R PCR; Lugo, Michael M; Dougherty, Joseph D JD; Kozel, Beth A BA
Publication Date: 2018-09

Variant appearance in text: TBL2: F164V
PubMed Link: 30008175
Variant Present in the following documents:
  • Main text
  • MGG3-6-749.pdf
  • MGG3-6-749-s003.xlsx, sheet 1
View BVdb publication page