Variant #0000000815 (NC_000005.10:g.112775715_112775718delATAG, APC(NM_000038.5):c.509_512delATAG)

Individual ID 00000126
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112775715_112775718delATAG
Reference -
DB-ID APC_000012
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-Hospital Universitario de Mendoza
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     

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Co_ocurrence     

Review status     
APC NM_000038.5 +/+ 5 c.509_512delATAG r.(?) p.(Asp170Valfs*4) Hetero N/A -



Screenings


AscendingScreening ID     

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Technique     

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Genes screened     

Variants found     

Owner     
0000000137 DNA SEQ-NG;z-score-CNV Héritas - 3-may-2017 - APC, MUTYH 10 Alejandra Mampel-Hospital Universitario de Mendoza