Genomic variant #0000012684

Individual ID 00016660
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.29121050del
Reference -
DB-ID CHEK2_000023 See all 2 reported entries
dbSNP ID rs587780183
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 0.00034
Allele Count 2
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.636del r.(?) p.(Phe212Leufs*2)
CHEK2 NM_001257387.1 +/+ - c.-271del r.(=) p.(=)
CHEK2 NM_007194.3 +/+ - c.507del r.(?) p.(Phe169Leufs*2)
CHEK2 NM_145862.2 +/+ - c.507del r.(?) p.(Phe169Leufs*2)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000329 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou