Variant #0000004379 (NC_000010.10:g.102750231A>G, C10orf2(NM_021830.4):c.1523A>G)

Individual ID 00004379
Chromosome 10
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.102750231A>G
Reference Nikali K1, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, L?nnqvist T, Peltonen L.(2005)
DB-ID C10orf2_000001
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00026 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     
C10orf2 NM_021830.4 ./. 3 c.1523A>G r.(?) p.(Tyr508Cys) 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     
0000004379 ? ? C10orf2 1 Y Yang