Genomic variant #0000037110

Individual ID 00016053
Chromosome 22
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29091857del
Reference -
DB-ID CHEK2_000083 See all 7 reported entries
dbSNP ID rs555607708
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00084
Allele Count 5
Allele Number 5952
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_001005735.1 +/+ - c.1229del r.(?) p.(Thr410Metfs*15)
CHEK2 NM_001257387.1 +/+ - c.437del r.(?) p.(Thr146Metfs*15)
CHEK2 NM_007194.3 +/+ - c.1100del r.(?) p.(Thr367Metfs*15)
CHEK2 NM_145862.2 +/+ - c.1013del r.(?) p.(Thr338Metfs*15)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004920 DNA SEQ 1 CHEK2 1 Despoina Kalfakakou