Genomic variant #0000041074

Individual ID 00015494
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.29119368_29125525del
Reference Apostolou et al (2018)
DB-ID CHEK2_000099
dbSNP ID -
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As CHEK2 exons 2-3 deletion
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 Variant not found in online data sets
Allele Count 0
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.448+883_721+1597del r.(?) p.(Lys150_Val241delinsIle)
CHEK2 NM_001257387.1 +/+ - c.-458-4170_-186+1597del r.(=) p.(=)
CHEK2 NM_007194.3 +/+ 2_3 c.320-4172_593-3895del r.(?) p.(Glu107_Lys197del)
CHEK2 NM_145862.2 +/+ - c.320-4170_592+1597del r.(?) p.(Glu107_Lys197del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004731 DNA MLPA 0 BRCA1, BRCA2, CHEK2 1 Despoina Kalfakakou