Genomic variant #0000441160

Individual ID 00208956
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.(?_32973495)_(32989890_?)del
DNA change (hg38) -
Published as complete APTX deletion
ISCN -
DB-ID APTX_000030
Variant remarks -
Reference PubMed: Amouri 2004
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     
0000210011 DNA SEQ;Southern blood - APTX 1 Rick van Minkelen