View genomic variant #0000000050

Chromosome 22
Allele Unknown
Affects function (reported) Affects function
Affects function (concluded) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29091857delG
Reference -
DB-ID CHEK2_000004
Frequency -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Florian Bayersdorfer




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_007194.3 +/+ 11 c.1100delC r.(?) p.(Thr367Metfs*15)