Variant #0000033330 (NC_000005.9:g.112103100_112103101insN[468], APC(NM_000038.5):c.422+14_422+15insN[468])

Individual ID 00013737
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112103100_112103101insN[468]
DNA change (hg38) -
Published as 422+14ins468
ISCN -
DB-ID APC_000272 See all 2 reported entries
Variant remarks UV (splice?) insertion corresponds to a sequence from Transposon L1.1 (Accession M80340.1, nt. 4373-4847)
Reference Aretz and Friedl (unpublished)
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 Stefan Aretz
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 ?/? 6i 3i c.422+14_422+15insN[468] r.(?) p.? - 0.000 insertion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013653 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Stefan Aretz