Variant #0000441165 (NC_000009.11:g.32987594G>T, APTX(NM_175073.2):c.431C>A)

Individual ID 00208961
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 -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00567 View details
Owner Rick van Minkelen
Database submission license No license selected
Created by Rick van Minkelen
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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     
0000210016 DNA SEQ blood - APTX 1 Rick van Minkelen