Genomic variant #0000037203

Individual ID 00016355
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.29100039_29107604del
Reference Apostolou et al (2018)
DB-ID CHEK2_000100 See all 6 reported entries
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation ?
Also Known As CHEK2 exon 6 deletion
Is Greek Founder Yes
Geographic Origin (for founder variants) Western part of Greece (Ioannina, Arta, and Patras)
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00017
Allele Count 1
Allele Number 5800
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_001005735.1 +/+ - c.921+293_976-485del r.(?) p.(Asp308_His325del)
CHEK2 NM_001257387.1 +/+ - c.129+293_184-485del r.(?) p.(Asp44_His61del)
CHEK2 NM_007194.3 +/+ 6 c.793-1557_847-485del r.793_846del p.(Asp265_His282del)
CHEK2 NM_145862.2 +/+ - c.792+293_847-485del r.(?) p.(Asp265_His282del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005015 DNA MLPA 0 CHEK2 1 Despoina Kalfakakou