Genomic variant #0000036690

Individual ID 00014958
Chromosome 22
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121073_29121074insTTCT
Reference -
DB-ID CHEK2_000081 See all 3 reported entries
dbSNP ID -
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 0.00017
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.612_613insAGAA r.(?) p.(Asp205Argfs*25)
CHEK2 NM_001257387.1 +/+ - c.-295_-294insAGAA r.(=) p.(=)
CHEK2 NM_007194.3 +/+ - c.483_484insAGAA r.(?) p.(Asp162Argfs*25)
CHEK2 NM_145862.2 +/+ - c.483_484insAGAA r.(?) p.(Asp162Argfs*25)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005307 DNA SEQ 1 CHEK2 1 Despoina Kalfakakou