Variant #0000174564 (NC_000005.9:g.112102931C>A, APC(NM_000038.5):c.266C>A)

Individual ID 00108138
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Affects function
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.112102931C>A
DNA change (hg38) g.112767234C>A
Published as -
ISCN -
DB-ID APC_000741 See all 3 reported entries
Variant remarks -
Reference -
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 Elke Holinski-Feder
Database submission license No license selected
Created by Elke Holinski-Feder
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 - c.266C>A r.(?) p.(Ser89*) nonsense - -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000108606 DNA SEQ - screen APC gene (index patient) APC 1 Elke Holinski-Feder