Variant #0000009148 (NC_000022.11:g.28695828T>C, CHEK2(NM_001005735.1):c.1270A>G)

Individual ID 00001812
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.28695828T>C
Reference -
DB-ID CHEK2_000039
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Claudia Martin-Hospital de Córdoba
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     

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DNA change (cDNA)     

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Review status     
CHEK2 NM_001005735.1 ?/? 12 c.1270A>G p.(Met424Val) Hetero no r.(?) -



Screenings


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Variants found     

Owner     
0000002097 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP55 20-aug-2021 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba