ARID1A c.5954C>G ;(p.S1985C)

Variant ID: 1-27106343-C-G

NM_006015.4(ARID1A):c.5954C>G;(p.S1985C)

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:

A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.

Annals Of Laboratory Medicine
Lee, Cha Gon CG; Ki, Chang-Seok CS
Publication Date: 2021-05-01

Variant appearance in text: ARID1A: 5954C>G; Ser1985Cys
PubMed Link: 33303725
Variant Present in the following documents:
  • Main text
  • ALM-41-350.pdf
View BVdb publication page