Variant #0000002998 (NC_000022.11:g.28734024T>C, CHEK2(NM_001005735.1):c.319+379A>G)

Individual ID 00000371
Chromosome 22
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.28734024T>C
Reference -
DB-ID CHEK2_000007 See all 11 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Alejandra Mampel-Hospital Universitario de Mendoza
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 -/-? 2i c.319+379A>G p.(=) Homo no r.(=) RECLASSIFIED JUNE 2019



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000424 DNA SEQ-NG IACA CNVs screening for BRCA1, BRCA2, PALB2 14-sep-2017 - BRCA1, BRCA2, CHEK2, PALB2 18 Alejandra Mampel-Hospital Universitario de Mendoza