Variant #0000002032 (NC_000006.11:g.145948713C>A, EPM2A(NM_005670.3):c.835G>T)

Individual ID 00002032
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.145948713C>A
Reference Jara-Prado A1, Ochoa A1, Alonso ME1, Lima Villeda GA1, Fernández-Valverde F2, Ruano-Calderón L2, Vargas-Ca?as S2, Durón RM3, Delgado-Escueta AV4, Martínez-Juárez IE5.(2014)
DB-ID EPM2A_000022
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
EPM2A NM_005670.3 ./. 4 c.835G>T r.(?) p.(Gly279Cys) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002032 ? ? EPM2A 1 Y Yang