Genomic variant #0000034298

Individual ID 00014705
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.112175755_112175762del
DNA change (hg38) g.112840058_112840065del
Published as 4464_4471delATTACATT
ISCN -
DB-ID APC_000740 See all 2 reported entries
Variant remarks -
Reference Hasanpour et al.
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Mojtaba Hasanpour
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 +/+ 18 15I c.4464_4471del r.(?) p.(Leu1488Phefs*23) frameshift - deletion, small



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014621 DNA SEQ - screen APC gene (index patient) APC 1 Mojtaba Hasanpour