Genomic variant #0000441114

Individual ID 00208923
Chromosome 9
Allele Both (homozygous)
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.32984806G>A
DNA change (hg38) g.32984808G>A
Published as -
ISCN -
DB-ID APTX_000005 See all 2 reported entries
Variant remarks -
Reference PubMed: Le Ber 2003
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 +/+ 7 c.593C>T r.(?) p.(Ala198Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209978 DNA SEQ blood - APTX 1 Sergio Piñeiro