Variant #0000001936 (NC_000006.11:g.146056383G>C, EPM2A(NM_005670.3):c.252C>G)

Individual ID 00001936
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.146056383G>C
Reference Gómez-Garre P1, Sanz Y, Rodríguez De Córdoba SR, Serratosa JM.(2000)
DB-ID EPM2A_000005
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 ./. 1 c.252C>G r.(?) p.(Phe84Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001936 ? ? EPM2A 1 Y Yang