View genomic variant #0000006117

Individual ID 00000901
Chromosome 5
Allele Unknown
Affects function (reported) Probably does not affect function
Affects function (concluded) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839954A>G
Reference Reclassified November 2020
DB-ID APC_000029
Average frequency (large NGS studies) Variant not found in online data sets
Owner Laura Vargas Roig-IMBECU




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Reference     
APC NM_000038.5 -?/-? 15 c.4360A>G r.(?) p.(Lys1454Glu) Hetero no -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001078 DNA SEQ-NG Héritas Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM 16-may-2018 Multigenetic panel - 9 Laura Vargas Roig-IMBECU