Genomic variant #0000441161

Individual ID 00208957
Chromosome 9
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32973554T>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID APTX_000031
Variant remarks -
Reference PubMed: van Minkelen 2015
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00177 View details
Owner Rick van Minkelen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 -/- 9 c.971A>T benign r.(?) p.(Gln324Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210012 DNA SEQ blood - APTX 1 Rick van Minkelen