Variant #0000003592 (NC_000001.10:g.8045055G>T, PARK7(NM_001123377.1):c.511G>T)

Individual ID 00003592
Chromosome 1
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.8045055G>T
Reference Clark LN, 2004
DB-ID PARK7_000008
Frequency -
Average frequency (gnomAD v.2.1.1) 0 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     
PARK7 NM_001123377.1 ./. 7 c.511G>T r.(?) p.(Ala171Ser) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000003592 ? ? PARK7 1 Y Yang