View genomic variant #0000005258

Individual ID 00000685
Chromosome 5
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839409C>G
Reference -
DB-ID APC_000026
Average frequency (large NGS studies) Variant not found in online data sets
Owner Pablo Kalfayan-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.3815C>G r.(?) p.(Ser1272*) Hetero N/A -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000798 DNA SEQ-NG Color-Genda Hereditary Cancer Risk Test (30 genes) 27-aug-2018 Multigenetic panel - 1 Pablo Kalfayan-Hospital Italiano