Variant #0000305677 (NC_000001.10:g.20975710C>T, PINK1(NM_032409.2):c.1474C>T)

Chromosome 1
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.20975710C>T
DNA change (hg38) g.20649217C>T
Published as PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*)
ISCN -
DB-ID PINK1_000036 See all 4 reported entries
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) 8.0E-5 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
DDOST NM_005216.4 +/. - c.*3162G>A r.(=) p.(=)
PINK1 NM_032409.2 +/. - c.1474C>T r.(?) p.(Arg492Ter)