View genomic variant #0000005267

Individual ID 00000695
Chromosome 5
Allele Unknown
Affects function (reported) Effect unknown
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839955A>T
Reference Reclassified June 2019
DB-ID APC_000027
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 ?/? 15 c.4361A>T r.(?) p.(Lys1454Ile) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000813 DNA SEQ-NG Color-Genda Hereditary Cancer Risk Test (30 genes) 27-aug-2018 Multigenetic panel - 2 Maria Gonzalez-Hospital Italiano