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
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.32986041_32986060del
DNA change (hg38) g.32986043_32986062del
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

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



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209979 DNA SEQ blood - APTX 3 Sergio Piñeiro