Variant #0000003470 (NC_000006.11:g.162475167T>G, PARK2(NM_004562.2):c.574A>C)

Individual ID 00003470
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162475167T>G
Reference Hedrich K, 2002;Clark LN, 2006;Wang Y, 2008;Okubadejo N, 2008;Sironi F, 2008;Bardien S, 2009;Nuytemans K, 2009
DB-ID PARK2_000026
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00429 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     
PARK2 NM_004562.2 ./. 5 c.574A>C r.(?) p.(Met192Leu) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003470 ? ? PARK2 1 Y Yang