Variant #0000006333 (NC_000022.11:g.28694073G>A, CHEK2(NM_001005735.1):c.1549C>T)

Individual ID 00000594
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.28694073G>A
Reference -
DB-ID CHEK2_000023
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
CHEK2 NM_001005735.1 +?/+? 14 c.1549C>T p.(Arg517Cys) Hetero no r.(?) RECLASSIFIED JULY 2022



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000681 DNA SEQ-NG IACA CNVs screening for BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 4-may-2018 Multigenetic panel ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, NBN, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 1 Lina Nuñez-Private Practice

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