View genomic variant #0000000043

Chromosome 22
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121087A>G
Reference -
DB-ID CHEK2_000001
Frequency -
Average frequency (large NGS studies) 0.00161 View details
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_007194.3 +?/? 4 c.470T>C r.(?) p.(Ile157Thr)