Genomic variant #0000001269

Individual ID 00000006
Chromosome 9
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
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 -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00615 View details
Owner Gerard C.P. Schaafsma




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

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     
0000000006 DNA SEQ-NG - - ACADM, APTX, ATP7B, GALC, MTHFR, SERPINA1, SGSH, SLC26A2 9 LOVD-team, but with Curator vacancy