Genomic variant #0000441111

Individual ID 00208921
Chromosome 9
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32987568T>C
DNA change (hg38) -
Published as -
ISCN -
DB-ID APTX_000001
Variant remarks -
Reference PubMed: Baba 2007
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00323 View details
Owner Sergio Piñeiro




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 -?/-? 5 c.457A>G likely benign r.(?) p.(Lys153Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000209976 DNA SEQ blood - APTX 1 Sergio Piñeiro