Variant #0000002888 (NC_000022.11:g.28695190C>A, NM_007194.3:c.1312G>T (CHEK2))

Individual ID 00000349
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.28695190C>A
Reference -
DB-ID CHEK2_000005 See all 4 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Norma Rossi-Hospital de Córdoba
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2017-12-22 11:38:19 -02:00 (-02)
Date last edited 2018-03-28 11:56:26 -03:00 (-03)
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
Protein     
Zygosity     
Co_ocurrence     
RNA change     
Review status     
CHEK2 NM_007194.3 ?/? 12 c.1312G>T p.(Asp438Tyr) Hetero no r.(?) -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000000398 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 2-nov-2017 Multigenetic panel - 1 Norma Rossi-Hospital de Córdoba

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