Variant #0000441185 (NC_000009.11:g.32987822A>G, APTX(NM_175073.2):c.203T>C)

Individual ID 00208979
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.32987822A>G
DNA change (hg38) g.32987824A>G
Published as -
ISCN -
DB-ID APTX_000046
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 ?/? 5 c.203T>C r.(?) p.(Ile68Thr)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210034 DNA SEQ blood - APTX 1 Rick van Minkelen