Genomic variant #0000441170

Individual ID 00208966
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.32984657A>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID APTX_000037 See all 2 reported entries
Variant remarks -
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) 0.00161 View details
Owner Rick van Minkelen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 ?/? 7 c.742T>A VUS r.(?) p.(Leu248Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210021 DNA SEQ blood - APTX 1 Rick van Minkelen