Genomic variant #0000035065

Individual ID 00015472
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.112061395_112083285delinsTGCTCTATGACCAATT
DNA change (hg38) g.112725697_112747588delinsTTGCTCTATGACCAATT
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 (large NGS studies) Variant not found in online data sets
Owner Tanya Kadiyska




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/. P_1_3i promoter 1B c.-12246_-18-7285delinsTGCTCTATGACCAATT pathogenic 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