Variant #0000002364 (NC_000015.9:g.89876954C>T, POLG(NM_002693.2):c.32G>A)

Individual ID 00002364
Chromosome 15
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.89876954C>T
Reference Mehta AR1, Fox SH, Tarnopolsky M, Yoon G.(2011)
DB-ID POLG_000002
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00017 View details
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     
POLG NM_002693.2 ./. 1 c.32G>A r.(?) p.(Gly11Asp) 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     
0000002364 ? ? POLG 1 Y Yang