Variant #0000031339 (NC_000005.9:g.112111325G>A, APC(NM_000038.5):c.423-1G>A)

Individual ID 00011746
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.112111325G>A
DNA change (hg38) g.112775628G>A
Published as intron 3, -1 position, agGT --> aaGT
ISCN -
DB-ID APC_000330 See all 52 reported entries
Variant remarks -
Reference PubMed: Spirio et al. 1999
ClinVar ID -
dbSNP ID -
Origin Germline
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.423-1G>A r.spl p.? splicing affected 0.000 substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011662 DNA SEQ ? test known APC variant (relative) APC 1 Stefan Aretz