Genomic variant #0000033756

Individual ID 00017868
Chromosome 22
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121018C>T
Reference -
DB-ID CHEK2_000005 See all 7 reported entries
dbSNP ID rs137853009
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 0.00086
Allele Count 5
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.668G>A r.(?) p.(Arg223His)
CHEK2 NM_001257387.1 ?/? - c.-239G>A r.(=) p.(=)
CHEK2 NM_007194.3 ?/? - c.539G>A r.(?) p.(Arg180His)
CHEK2 NM_145862.2 ?/? - c.539G>A r.(?) p.(Arg180His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001988 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou