MED16 c.328A>G ;(p.M110V)

Variant ID: 19-889757-T-C

NM_005481.2(MED16):c.328A>G;(p.M110V)

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:

Exome sequencing of a family with lone, autosomal dominant atrial flutter identifies a rare variation in ABCB4 significantly enriched in cases.

Bmc Genetics
Maciąg, Anna A; Villa, Francesco F; Ferrario, Anna A; Spinelli, Chiara Carmela CC; Carrizzo, Albino A; Malovini, Alberto A; Torella, Annalaura A; Montenero, Chiara C; Parisi, Attilio A; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale Sandro AS; Puca, Annibale Alessandro AA
Publication Date: 2015-02-11

Variant appearance in text: MED16: M110V
PubMed Link: 25888430
Variant Present in the following documents:
  • 12863_2015_177_MOESM1_ESM.xls, sheet 1
View BVdb publication page