View genomic variant #0000003079

Individual ID 00000381
Chromosome 5
Allele Unknown
Affects function (reported) Probably does not affect function
Affects function (concluded) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839920T>A
Reference Reclassified June 2019
DB-ID APC_000023 See all 2 reported entries
Average frequency (large NGS studies) Variant not found in online data sets
Owner Gonzalo Tabares-CEMA




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
APC NM_000038.5 -?/- 15 c.4326T>A r.(=) p.(=) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000434 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 12-dic-2017 Multigenetic panel - 4 Gonzalo Tabares-CEMA