Variant #0000000780 (NC_000022.11:g.28725089T>C, CHEK2(NM_007194.3):c.480A>G)

Individual ID 00000152
Chromosome 22
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg38 / GRCh38) g.28725089T>C
Published as -
Reference Suriati Mohamad et al. (2015)dbSNP
DB-ID CHEK2_000001 See all 2 reported entries
dbSNP ID rs575910805
Frequency 1/4
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 ./. 3 c.480A>G - r.(?) p.(Ile160Met) - ClinVar



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000000167 DNA SEQ CHEK2 2 Nuur Athirah Binti Mohd Daud