Genomic variant #0000441167

Individual ID 00208963
Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.32987594G>T
DNA change (hg38) g.32987596G>T
Published as -
ISCN -
DB-ID APTX_000035 See all 4 reported entries
Variant remarks probably not pathogenic
Reference van Minkelen et al. In preparation
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00584 View details
Owner Rick van Minkelen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 -?/-? 5 c.431C>A r.(?) p.(Ser144Tyr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210018 DNA SEQ blood - APTX 1 Rick van Minkelen