Genomic variant #0000024438

Individual ID 00017467
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.29091725C>T
Reference -
DB-ID CHEK2_000019 See all 4 reported entries
dbSNP ID rs371418985
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 0.00052
Allele Count 3
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.1361G>A r.(?) p.(Trp454*)
CHEK2 NM_001257387.1 +/+ - c.569G>A r.(?) p.(Trp190*)
CHEK2 NM_007194.3 +/+ - c.1232G>A r.(?) p.(Trp411*)
CHEK2 NM_145862.2 +/+ - c.1145G>A r.(?) p.(Trp382*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001126 DNA SEQ-NG-I 1 - 13 Despoina Kalfakakou