View genomic variant #0000000045

Chromosome 22
Allele Unknown
Affects function (reported) Probably affects function
Affects function (concluded) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29105987_29105990delTACT
Reference -
DB-ID CHEK2_000002
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 +?/+? 7 c.846+4_846+7delAGTA r.spl? p.?