Variant #0000000791 (NC_000022.11:g.28695734_28695758del, CHEK2(NM_007194.3):c.1211_1235del)

Individual ID 00000160
Chromosome 22
Allele Unknown
Affects function (as reported) Probably affects function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.28695734_28695758del
Published as Y404fs
Reference P S Ng et al. (2016)
DB-ID CHEK2_000004
dbSNP ID -
Frequency 1/3
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Nuur Athirah Binti Mohd Daud
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Nuur Athirah Binti Mohd Daud
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     
CHEK2 NM_007194.3 +?/. 11 c.1211_1235del - r.(?) p.(Tyr404Phefs*2) - -



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000175 DNA SEQ-NG CHEK2 3 Nuur Athirah Binti Mohd Daud