Variant #0000006453 (NC_000005.10:g.112839920T>A, APC(NM_000038.5):c.4326T>A)

Individual ID 00001018
Chromosome 5
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839920T>A
Reference -
DB-ID APC_000023 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Maria Laura Gonzalez-Hospital Italiano
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.4326T>A r.(=) p.(=) Hetero APC -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001220 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 5-dec-2018 Specific pathology APC, MUTYH 10 Maria Laura Gonzalez-Hospital Italiano