Variant #0000009047 (NC_000005.10:g.112780789G>A, APC(NM_000038.5):c.532-1G>A)

Individual ID 00001727
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112780789G>A
Reference -
DB-ID APC_000050
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez - Instituto Donna
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     
APC NM_000038.5 +/+ 4i c.532-1G>A r.spl? p.? Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002006 DNA SEQ-NG Myriad NGS de APC y MUTYH 07-feb-2019 Specific pathology APC, MUTYH 1 Marcela Lopez - Instituto Donna