Variant #0000527939 (NC_000006.11:g.162864411_162864412del, PARK2(NM_004562.2):c.101_102del)

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.162864411_162864412del
DNA change (hg38) g.162443379_162443380del
Published as PARK2(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.2):c.101_102delAG (p.Q34Rfs*5), PRKN(NM_004562.3):c.101_102delAG (p.Q34Rfs*5)
ISCN -
DB-ID PARK2_000007 See all 3 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) 0.00024 View details
Owner VKGL-NL_Groningen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Groningen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
PARK2 NM_004562.2 +/. - c.101_102del r.(?) p.(Gln34ArgfsTer5)
PACRG NM_152410.2 +/. - c.-283977_-283976del r.(?) p.(=)