Variant #0000003753 (NC_000006.11:g.162206852G>A, PARK2(NM_004562.2):c.823C>T)

Individual ID 00003753
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162206852G>A
Reference Li H1, Yusufujiang A2, Naser S2, Zhu Y3, Maimaiti M2, He X2, Bu J2, Meng X2, Wang M2, Li J2, Dina B2, Yang L2, Nayi Z2, Dang H2, Wang C2, Amiti D2, Aji A2, (2014)
DB-ID PARK2_000108 See all 3 reported entries
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00191 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     
PARK2 NM_004562.2 ./. 7 c.823C>T r.(?) p.(Arg275Trp) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003753 ? ? PARK2 1 Y Yang