View genomic variant #0000006470

Individual ID 00001019
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.112827157T>C
Reference -
DB-ID APC_000006 See all 13 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Maria Gonzalez-Hospital Italiano




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
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 Genia-Hospital Italiano - 16-apr-2019 Specific pathology APC, MUTYH 8 Maria Gonzalez-Hospital Italiano