Variant #0000035065 (NC_000005.9:g.112061395_112083285delinsTGCTCTATGACCAATT, APC(NM_000038.5):c.-12246_-18-7285delinsTGCTCTATGACCAATT)

Individual ID 00015472
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.112061395_112083285delinsTGCTCTATGACCAATT
DNA change (hg38) g.112725698_112747588delinsTGCTCTATGACCAATT
Published as g.112,061,394_112,083,285del 21,890 insTTGCTCTATGACCAATT
ISCN -
DB-ID APC_001246
Variant remarks -
Reference -
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 Tanya Kadiyska
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 +/. _1_3i promoter 1B c.-12246_-18-7285delinsTGCTCTATGACCAATT r.(?) p.? deletion, large - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000015388 DNA arrayCGH;MLPA;SEQ leukocytes unknown APC 1 Tanya Kadiyska