Genomic variant #0000040943

Individual ID 00017885
Chromosome 22
Allele Parent #2
Affects function (as reported) Probably affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.29121233T>C
Reference -
DB-ID CHEK2_000057 See all 2 reported entries
dbSNP ID rs876660482
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 0.00017
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.571A>G r.(?) p.(Arg191Gly)
CHEK2 NM_001257387.1 +?/+? - c.-336A>G r.(=) p.(=)
CHEK2 NM_007194.3 +?/+? - c.442A>G r.(?) p.(Arg148Gly)
CHEK2 NM_145862.2 +?/+? - c.442A>G r.(?) p.(Arg148Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007060 DNA SEQ 0 CHEK2 1 Despoina Kalfakakou