View genomic variant #0000000815

Individual ID 00000126
Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112775715_112775718delATAG
Reference -
DB-ID APC_000012
Average frequency (large NGS studies) Variant not found in online data sets
Owner Alejandra Mampel-Hospital Universitario de Mendoza




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
APC NM_000038.5 +/+ 5 c.509_512delATAG r.(?) p.(Asp170Valfs*4) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000137 DNA SEQ-NG;z-score-CNV Héritas - 3-may-2017 - APC, MUTYH 10 Alejandra Mampel-Hospital Universitario de Mendoza