Variant #0000001506 (NC_000005.10:g.112842552C>T, APC(NM_000038.5):c.6958C>T)

Individual ID 00000188
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.112842552C>T
Reference -
DB-ID APC_000019
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-COIR
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.6958C>T r.(?) p.(Pro2320Ser) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000214 DNA SEQ-NG CEMIC - 15-mar-2017 - APC, MUTYH 13 Alejandra Mampel-COIR