Variant #0000802440 (NC_000006.11:g.162206825C>G, NM_004562.2:c.850G>C (PARK2))

Chromosome 6
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.162206825C>G
DNA change (hg38) -
Published as PRKN(NM_004562.3):c.850G>C (p.G284R)
ISCN -
DB-ID PARK2_000039 See all 2 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) 1.0E-5 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
Date created 2021-09-17 14:40:49 +02:00 (CEST)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +/. - c.850G>C r.(?) p.(Gly284Arg)
PACRG NM_152410.2 +/. - c.-941563C>G r.(?) p.(=)


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