Genomic variant #0000036676

Individual ID 00018884
Chromosome 22
Allele Maternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121008C>G
Reference -
DB-ID CHEK2_000080 See all 5 reported entries
dbSNP ID rs745646057
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 0.00069
Allele Count 4
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.678G>C r.(?) p.(Leu226Phe)
CHEK2 NM_001257387.1 +?/+? - c.-229G>C r.(=) p.(=)
CHEK2 NM_007194.3 +?/+? - c.549G>C r.(?) p.(Leu183Phe)
CHEK2 NM_145862.2 +?/+? - c.549G>C r.(?) p.(Leu183Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000004509 DNA SEQ 0 CHEK2 1 Despoina Kalfakakou