Variant #0000441159 (NC_000009.11:g.32984799del, APTX(NM_175073.2):c.601del)

Individual ID 00208955
Chromosome 9
Allele Both (homozygous)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.32984799del
DNA change (hg38) g.32984801del
Published as 643delC
ISCN -
DB-ID APTX_000029
Variant remarks -
Reference PubMed: Nouri et al 2012
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Rick van Minkelen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 +/+ 7 c.601del r.(?) p.(His201Ilefs*13)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210010 DNA SEQ blood - APTX 1 Rick van Minkelen