Variant #0000527938 (NC_000006.11:g.162864403G>A, PARK2(NM_004562.2):c.110C>T)

Chromosome 6
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864403G>A
DNA change (hg38) g.162443371G>A
Published as PARK2(NM_004562.2):c.110C>T (p.P37L)
ISCN -
DB-ID PARK2_000009 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) 0.00017 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     
PARK2 NM_004562.2 ?/. - c.110C>T r.(?) p.(Pro37Leu)
PACRG NM_152410.2 ?/. - c.-283985G>A r.(?) p.(=)