Genomic variant #0000441116

Individual ID 00208924
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32986034_32986053del
DNA change (hg38) -
Published as 484-31_484-12del20
ISCN -
DB-ID APTX_000027 See all 2 reported entries
Variant remarks -
Reference PubMed: Moreira 2001
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




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 -/- 5i c.484-25_484-6del benign r.(?) p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209979 DNA SEQ blood - APTX 3 Sergio Piñeiro