PALM c.305A>C ;(p.D102A)

Variant ID: 19-731130-A-C

NM_002579.2(PALM):c.305A>C;(p.D102A)

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:

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

American Journal Of Human Genetics
Harms, Frederike L FL; Kloth, Katja K; Bley, Annette A; Denecke, Jonas J; Santer, René R; Lessel, Davor D; Hempel, Maja M; Kutsche, Kerstin K
Publication Date: 2018-10-04

Variant appearance in text: PALM: 305A>C; Asp102Ala
PubMed Link: 30290153
Variant Present in the following documents:
  • Main text
View BVdb publication page