Variant #0000007584 (NC_000022.11:g.28725372A>T, CHEK2(NM_001005735.1):c.449-5T>A)

Individual ID 00001296
Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.28725372A>T
Reference -
DB-ID CHEK2_000018 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Silvina Sisterna-Hospital de Comunidad
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     

AscendingTranscript     

Affects function     

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DNA change (cDNA)     

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RNA change     

Review status     
CHEK2 NM_001005735.1 -/? 3i c.449-5T>A p.? Hetero no r.spl? -



Screenings


AscendingScreening ID     

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Owner     
0000001535 DNA CNV;SEQ-NG IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) 16-aug-2019 Multigenetic panel - 44 Silvina Sisterna-Hospital de Comunidad