Variant #0000001172 (NC_000005.10:g.112840073G>A, APC(NM_000038.5):c.4479G>A)

Individual ID 00000159
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.112840073G>A
Reference -
DB-ID APC_000008 See all 15 reported entries
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
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
APC NM_000038.5 -/- 15 c.4479G>A r.(=) p.(=) Homo no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000179 DNA SEQ-NG CEMIC - 4-jul-2016 - APC, MUTYH 9 Maria Laura Gonzalez-Hospital Italiano