Variant #0000031305 (NC_000005.9:g.112111322del, APC(NM_000038.5):c.423-4del)

Individual ID 00011712
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112111322del
DNA change (hg38) g.112775625del
Published as codon 142, aatag/GTC --> atag/GTC
ISCN -
DB-ID APC_000744 See all 11 reported entries
Variant remarks -
Reference PubMed: Miyoshi et al. 1992
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Stefan Aretz
Database submission license No license selected
Created by Stefan Aretz
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 ?/? 6i 3i c.423-4del r.spl? p.? splicing affected - deletion, small



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011628 DNA SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz