Variant #0000033886 (NC_000005.9:g.112102927C>T, APC(NM_000038.5):c.262C>T)

Individual ID 00014293
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.112102927C>T
DNA change (hg38) g.112767230C>T
Published as -
ISCN -
DB-ID APC_000648
Variant remarks -
Reference Carli Tops (unpublished)
ClinVar ID -
dbSNP ID -
Origin Unknown
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner Carli Tops
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 ?/? 6 3 c.262C>T r.(?) p.(Arg88Trp) missense - substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014209 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Carli Tops