Variant #0000001980 (NC_000006.11:g.146056478_146056592del115, EPM2A(NM_005670.3):c.43_157del115)

Individual ID 00001980
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.146056478_146056592del115
Reference Ianzano L1, Young EJ, Zhao XC, Chan EM, Rodriguez MT, Torrado MV, Scherer SW, Minassian BA.(2004)
DB-ID EPM2A_000041
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
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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 ./. 1 c.43_157del115 r.(?) p.(Gly15Profs*37) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001980 ? ? EPM2A 1 Y Yang