Genomic variant #0000027446

Individual ID 00020767
Chromosome 22
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29092917G>A
Reference -
DB-ID CHEK2_000044 See all 8 reported entries
dbSNP ID rs137853011
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 0.00134
Allele Count 8
Allele Number 5952
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_001005735.1 -?/-? - c.1196C>T r.(?) p.(Ser399Leu)
CHEK2 NM_001257387.1 -?/-? - c.404C>T r.(?) p.(Ser135Leu)
CHEK2 NM_007194.3 -?/-? - c.1067C>T r.(?) p.(Ser356Leu)
CHEK2 NM_145862.2 -?/-? - c.1009-1056C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001424 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou