Genomic variant #0000037294

Individual ID 00019325
Chromosome 22
Allele Paternal (confirmed)
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121242G>A
Reference -
DB-ID CHEK2_000025 See all 4 reported entries
dbSNP ID rs137853007
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.562C>T r.(?) p.(Arg188Trp)
CHEK2 NM_001257387.1 +?/+? - c.-345C>T r.(=) p.(=)
CHEK2 NM_007194.3 +?/+? - c.433C>T r.(?) p.(Arg145Trp)
CHEK2 NM_145862.2 +?/+? - c.433C>T r.(?) p.(Arg145Trp)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005107 DNA SEQ 0 CHEK2 1 Despoina Kalfakakou