View genomic variant #0000002484

Individual ID 00000284
Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.112838114dupC
Reference -
DB-ID APC_000022
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.2520dupC r.(?) p.(Asp842Argfs*2) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000333 DNA SEQ-NG Genia - 6-sep-2017 - APC, MUTYH 10 Maria Gonzalez-Hospital Italiano