Genomic variant #0000040963

Individual ID 00015298
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.(29130716_29137756)_(29137822_?)del
Reference -
DB-ID CHEK2_000098
dbSNP ID -
Variant remarks Deletion extending 5' of a transcript (breakpoints not sequenced). According to HGVS it is┬árecommended to describe it only using genomic coordinates.
Genetic origin Germline
Segregation -
Also Known As CHEK2 exon 1 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 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.(?) r.(?) p.(?)
CHEK2 NM_001257387.1 +/+ - c.(?) r.(?) p.(?)
CHEK2 NM_007194.3 +/+ - c.(?) r.(?) p.(?)
CHEK2 NM_145862.2 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005619 DNA SEQ-NG-I 1 - 1 Despoina Kalfakakou