Variant #0000651886 (NC_000006.11:g.162864377C>T, PARK2(NM_004562.2):c.136G>A)

Individual ID 00294029
Chromosome 6
Allele Parent #1
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864377C>T
DNA change (hg38) g.162443345C>T
Published as -
ISCN -
DB-ID PARK2_000202
Variant remarks 2 heterozygous, no homozygous; Clinindb (India)
Reference PubMed: Narang 2020, Journal: Narang 2020
ClinVar ID -
dbSNP ID rs75860381
Origin Germline
Segregation -
Frequency 2/2795 individuals
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00147 View details
Owner Mohammed Faruq
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 -/. - c.136G>A r.(?) p.(Ala46Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000295197 DNA arraySNP - Infinium Global Screening Array v1.0 - 1 Mohammed Faruq