Variant #0000441115 (NC_000009.11:g.32984803C>T, APTX(NM_175073.2):c.596G>A)

Individual ID 00208924
Chromosome 9
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic (recessive)
DNA change (genomic) (Relative to hg19 / GRCh37) g.32984803C>T
DNA change (hg38) g.32984805C>T
Published as -
ISCN -
DB-ID APTX_000006 See all 4 reported entries
Variant remarks no maternal variant identified
Reference PubMed: Moreira 2001
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00158 View details
Owner Sergio Piñeiro
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 +/+ 7 c.596G>A r.(?) p.(Arg199His)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209979 DNA SEQ blood - APTX 3 Sergio Piñeiro