Genomic variant #0000032147

Individual ID 00012554
Chromosome 5
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.112043280_112043281insG
DNA change (hg38) g.112707583_112707584insG
Published as -47307insG
ISCN -
DB-ID APC_000417
Variant remarks numbering 5' of ATG
Reference -
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 Elke Holinski-Feder




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 ?/? _1 Promotor c.-30361_-30360insG VUS r.(?) p.? - - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000012470 DNA SEQ ? screen APC gene (index patient) APC 1 Elke Holinski-Feder