Variant #0000873177 (NC_000006.11:g.162864411_162864412del, PARK2(NM_004562.2):c.101_102del)

Individual ID 00414078
Chromosome 6
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.162864411_162864412del
DNA change (hg38) -
Published as NM_004562.2:c.101_102del
ISCN -
DB-ID PARK2_000007 See all 4 reported entries
Variant remarks -
Reference Pennings et al. 2022, in progress
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00024 View details
Owner Maartje Pennings
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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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.(Gln34Argfs*5)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415357 DNA SEQ;SEQ-NG blood WES - 2 Maartje Pennings