Variant #0000007210 (NC_000022.11:g.28725372A>T, CHEK2(NM_001005735.1):c.449-5T>A)

Individual ID 00001281
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
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     

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Review status     
CHEK2 NM_001005735.1 ?/? 3i c.449-5T>A p.? Hetero no r.spl? NM_007194.4(CHEK2):c.320-5T>A rs121908700



Screenings


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Owner     
0000001520 DNA CNV;SEQ-NG IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) 10-jan-2020 Multigenetic panel - 36 Silvina Sisterna-Hospital de Comunidad