Variant #0000033874 (NC_000005.9:g.112090657C>T, APC(NM_000038.5):c.70C>T)

Individual ID 00014281
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112090657C>T
DNA change (hg38) g.112754960C>T
Published as -
ISCN -
DB-ID APC_000551 See all 2 reported entries
Variant remarks -
Reference PubMed: Kanter-Smoler et al. 2008
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Stefan Aretz
Database submission license No license selected
Created by Pia Ostergaard
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/+ 4 1 c.70C>T r.(?) p.(Arg24*) nonsense - substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014197 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Stefan Aretz