Bibliome.ai browser hg19
Search
About
Stats
FAQ
MYOM1 c.846A>G ;(p.K282=)
Variant ID: 18-3187561-T-C
NM_003803.3(
MYOM1
):c.846A>G;(p.K282=)
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 is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.
Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014
Variant appearance in text: MYOM1: K282K
PubMed Link:
25333361
Variant Present in the following documents:
pone.0109576.s002.xls, sheet 3
pone.0109576.s001.xls, sheet 3
pone.0109576.s003.xls, sheet 3
View BVdb publication page