Bibliome.ai browser hg19
Search
About
Stats
FAQ
AADACL4 c.514C>G ;(p.H172D)
Variant ID: 1-12726036-C-G
NM_001013630.1(
AADACL4
):c.514C>G;(p.H172D)
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: AADACL4: H172D; rs142659885
PubMed Link:
25469153
Variant Present in the following documents:
12979_2014_19_MOESM2_ESM.xls, sheet 1
View BVdb publication page