Genomic variant #0000169493

Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.100763477_100768245del
DNA change (hg38) g.100111223_100115991del
Published as -
ISCN -
DB-ID PCCA_000013 See all 2 reported entries
Variant remarks expression cloning, no enzyme activity
Reference {PMID19157943:Desviat 2009}
ClinVar ID -
dbSNP ID -
Origin In vitro (cloned)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Johan den Dunnen




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
PCCA NM_000282.3 +/. 2i_4i c.184-618_300+3930del - - p.Thr62_Ser100del