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PLEKHG2 c.2465G>A ;(p.R822Q)
Variant ID: 19-39914159-G-A
NM_022835.2(
PLEKHG2
):c.2465G>A;(p.R822Q)
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 G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.
Immunity & Ageing : I & A
Villa, Francesco F; MaciÄ…g, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA
Publication Date: 2014
Variant appearance in text: PLEKHG2: R822Q; rs147184413
PubMed Link:
25469153
Variant Present in the following documents:
12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page