Variant #0000001943 (NC_000006.11:g.145956540T>C, EPM2A(NM_005670.3):c.559A>G)

Individual ID 00001943
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.145956540T>C
Reference Ki CS1, Kong SY, Seo DW, Hong SB, Kim HJ, Kim JW.(2003)
DB-ID EPM2A_000011
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
EPM2A NM_005670.3 ./. 3 c.559A>G r.(?) p.(Thr187Ala) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001943 ? ? EPM2A 1 Y Yang