Genomic variant #0000441181

Individual ID 00208975
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32858130_33025183del
DNA change (hg38) -
Published as -23729_*115366del155489
ISCN -
DB-ID APTX_000042
Variant remarks -
Reference PubMed: Yoon 2009, PubMed: van Minkelen 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation yes
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Rick van Minkelen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 +/+ _1_9_ c.0 pathogenic (recessive) r.0 p.0



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210030 DNA arrayCNV;MLPA;SEQ EDTA blood - APTX 1 Rick van Minkelen