Variant #0000002103 (NC_000006.12:g.145627654T>A, NM_001018041.1:c.758A>T (EPM2A))

Individual ID 00000450
Chromosome 6
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.145627654T>A
Published as -
Reference Sow Kuan Tee et al.(2019)
DB-ID EPM2A_000001
dbSNP ID rs749937487
Frequency -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nur Aisyah Athirah
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nur Aisyah Athirah
Date created 2021-02-23 12:04:29 +08:00 (CST)
Date last edited 2021-08-01 13:04:47 +08:00 (CST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

Clinical classification     
EPM2A NM_001018041.1 +/. - c.758A>T - r.(?) p.(His253Leu) Uncertain significance
EPM2A NM_005670.3 +/. 4 c.758A>T - r.(?) p.(His253Leu) Uncertain significance
EPM2A XM_011536116.1 +/. - c.344A>T - r.(?) p.(His115Leu) Uncertain significance



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000489 DNA arrayCGH EPM2A 1 Nur Aisyah Athirah