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SLC24A3 c.424_426delinsTGA ;(p.R142*)
Variant ID: 20-19565615-CGC-TGA
NM_020689.3(
SLC24A3
):c.424_426delinsTGA;(p.R142*)
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:
Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.
Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12
Variant appearance in text: SLC24A3: R142X
PubMed Link:
27001614
Variant Present in the following documents:
NIHMS753666-supplement-2.xlsx, sheet 5
View BVdb publication page