Variant #0000009382 (NC_000005.10:g.112839223A>T, APC(NM_000038.5):c.3629A>T)

Individual ID 00002093
Chromosome 5
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.112839223A>T
Reference -
DB-ID APC_000061 See all 2 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Jesica Ramirez-Hospital Central de Mendoza
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
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Variant on transcripts


Gene     

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APC NM_000038.5 ?/? 16 c.3629A>T r.(3629a>u) p.(His1210Leu) Hetero no -



Screenings


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Variants found     

Owner     
0000002380 DNA SEQ-NG Genda/Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 24-jun-2022 Multigenetic panel - 1 Jesica Ramirez-Hospital Central de Mendoza