Variant #0000001687 (NC_000005.10:g.112707687T>G, APC(NM_000038.5):c.-30257T>G)

Individual ID 00000188
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.112707687T>G
Reference -
DB-ID APC_000020
dbSNP ID -
Variant remarks NM_001127511.2: c.-31T>G
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-COIR
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'UTR c.-30257T>G r.(=) p.(=) Hetero no RECLASSIFIED OCTOBER 2017



Screenings


AscendingScreening ID     

Template     

Technique     

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Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000214 DNA SEQ-NG CEMIC - 15-mar-2017 - APC, MUTYH 13 Alejandra Mampel-COIR