Genomic variant #0000441155

Individual ID 00208953
Chromosome 9
Allele Parent #1
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.32987548del
DNA change (hg38) g.32987550del
Published as 477delC
ISCN -
DB-ID APTX_000025
Variant remarks -
Reference PubMed: Castellotti 2011
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 +/+ 5 c.477del r.(?) p.(Lys161Argfs*11)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210008 DNA SEQ blood - APTX 2 Sergio Piñeiro