Variant #0000009057 (NC_000005.10:g.112839777dupA, APC(NM_000038.5):c.4183dupA)

Individual ID 00001737
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839777dupA
Reference -
DB-ID APC_000052 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Marcela Lopez-CEMAFE
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 +/+? 15 c.4183dupA r.(?) p.(Ser1395Lysfs*3) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002016 DNA SEQ-NG CIBIC/Héritas Panel Polipomatosis adenomatosa familiar (5 genes) APC, BMPRA1, MUTYH, PTEN, SMAD4 01-oct-2018 Multigenetic panel APC, BMPR1A, MUTYH, PTEN, SMAD4 1 Marcela Lopez-CEMAFE