Variant #0000006608 (NC_000005.10:g.112837588T>G, APC(NM_000038.5):c.1994T>G)

Individual ID 00001059
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112837588T>G
Reference -
DB-ID APC_000035
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jesica Ramirez-Hospital Central de Mendoza
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 +/+ 15 c.1994T>G r.(?) p.(Leu665*) Hetero MUTYH -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001265 DNA SEQ-NG;CNV Genesia - Progenitest;INVITAE Invitae Multi-Cancer Panel (84 genes) 14-oct-2019 Multigenetic panel - 3 Jesica Ramirez-Hospital Central de Mendoza