Variant #0000973600 (NC_000001.10:g.20976940G>A, NM_032409.2:c.1502G>A (PINK1))

Chromosome 1
Allele Unknown
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.20976940G>A
DNA change (hg38) -
Published as PINK1(NM_032409.3):c.1502G>A (p.R501Q)
ISCN -
DB-ID DDOST_000007
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.0025 View details
Owner VKGL-NL_VUmc
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_VUmc
Date created 2024-04-19 20:20:39 +02:00 (CEST)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDOST NM_005216.4 -/. - c.*1932C>T r.(=) p.(=)
PINK1 NM_032409.2 -/. - c.1502G>A r.(?) p.(Arg501Gln)


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.