Variant #0000305016 (NC_000006.11:g.162864465C>T, PARK2(NM_004562.2):c.48G>A)

Chromosome 6
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864465C>T
DNA change (hg38) g.162443433C>T
Published as PARK2(NM_004562.2):c.48G>A (p.E16=)
ISCN -
DB-ID PARK2_000170
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00077 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 -?/. - c.48G>A r.(?) p.(Glu16=)
PACRG NM_152410.2 -?/. - c.-283923C>T r.(?) p.(=)