Variant #0000035190 (NC_000005.9:g.112103089T>A, APC(NM_000038.5):c.422+2T>A)

Individual ID 00015597
Chromosome 5
Allele Parent #1
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.112103089T>A
DNA change (hg38) g.112767392T>A
Published as 422+2T>A
ISCN -
DB-ID APC_001521
Variant remarks -
Reference PubMed: Lagarde et al. 2010
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 Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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.422+2T>A r.spl p.? splicing affected - substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000015513 DNA SEQ ? screen APC gene (index patient) APC 1 Stefan Aretz