Variant #0000006470 (NC_000005.10:g.112827157T>C, APC(NM_000038.5):c.1458T>C)

Individual ID 00001019
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.112827157T>C
Reference -
DB-ID APC_000006 See all 13 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 -/- 11 c.1458T>C r.(=) p.(=) Hetero MUTYH -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001223 DNA SEQ-NG Dasa Genómica - Genia;Hospital Italiano de Buenos Aires - 16-apr-2019 Specific pathology APC, MUTYH 8 Maria Laura Gonzalez-Hospital Italiano