Variant #0000011961 (NC_000005.10:g.112838220C>T, APC(NM_000038.6):c.2626C>T)

Individual ID 00005673, 00005933
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.112838220C>T
Reference -
DB-ID chr5_000037
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi - Sanatorio Allende
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
RNA change     
Protein     
Zygosity     
Co_ocurrence     
Review status     
APC NM_000038.6 +/+ 25 c.2626C>T r.(?) p.(Arg876*) Hetero no -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000009865 DNA SEQ-NG;CNV Sanatorio Allende Panel de genes asociados a Poliposis y Cáncer colorectal APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, CDH1, CHEK2, EPCAM, FAN1, FOCAD, GALNT1 (98.84%), GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2 (93.75%), POLD1, POLE, PTEN, RAB3, SMAD4, STK11, TP53. 06-apr-2026 Multigenetic panel - 1 Norma Rossi - Sanatorio Allende
0000010140 DNA SEQ-NG;CNV Sanatorio Allende APC, ATM, AXIN2, BLM, BMPR1A, BRCA1, CDH1, CHEK2, EPCAM, FAN1, FOCAD, GALNT1, GREM1, MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, RAB43, SMAD4, STK11, TP53 06-apr-2026 Multigenetic panel - 1 Norma Rossi - Sanatorio Allende

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