Genomic variant #0000441158

Individual ID 00208954
Chromosome 9
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.32974493C>T
DNA change (hg38) -
Published as -
ISCN -
DB-ID APTX_000004 See all 18 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.00023 View details
Owner Sergio Piñeiro




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
APTX NM_175073.2 +/+ 8 c.837G>A pathogenic (recessive) r.(?) p.(Trp279*)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000210009 DNA SEQ blood - APTX 2 Sergio Piñeiro