Genomic variant #0000441184

Individual ID 00208978
Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32989872C>A
DNA change (hg38) -
Published as -
ISCN -
DB-ID APTX_000045
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) 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 -?/-? 3 c.18G>T likely benign r.(?) p.(Trp6Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210033 DNA SEQ blood - APTX 1 Rick van Minkelen