View genomic variant #0000001500

Individual ID 00000188
Chromosome 5
Allele Unknown
Affects function (reported) Does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112835173T>C
Reference Reclassified June 2019
DB-ID APC_000018
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alejandra Mampel-COIR




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
APC NM_000038.5 -/- 14i c.1958+8T>C r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

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