Genomic variant #0000441150

Individual ID 00208949
Chromosome 9
Allele Unknown
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.32974490del
DNA change (hg38) g.32974492del
Published as 840delT
ISCN -
DB-ID APTX_000022
Variant remarks -
Reference PubMed: Date 2001, PubMed: Seidle et al 2005
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 Sergio Piñeiro
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APTX NM_175073.2 +/+ 8 c.841del r.(?) p.(Ser281Leufs*8)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210004 DNA SEQ blood - APTX 2 Sergio Piñeiro