Variant #0000006389 (NC_000005.10:g.112819026C>T, APC(NM_000038.5):c.994C>T)

Individual ID 00000976
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112819026C>T
Reference -
DB-ID APC_000031
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Pablo Kalfayan-Hospital Italiano
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
APC NM_000038.5 +/+ 10 c.994C>T r.(?) p.(Arg332*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001178 DNA SEQ-NG;CNV GENDA;COLOR Hereditary Cancer Risk Test (30 Genes) 15-aug-2019 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano