Variant #0000003462 (NC_000006.11:g.162394341C>T, PARK2(NM_004562.2):c.727G>A)

Individual ID 00003462
Chromosome 6
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.162394341C>T
Reference Romito LM, 2005;Brooks J, 2009
DB-ID PARK2_000018
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00029 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 ./. 6 c.727G>A r.(?) p.(Asp243Asn) 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     
0000003462 ? ? PARK2 1 Y Yang