Genomic variant #0000021604

Individual ID 00017128
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.29107974C>G
Reference -
DB-ID CHEK2_000040
dbSNP ID -
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 0.00024
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_001005735.1 -?/-? - c.844G>C r.(?) p.(Glu282Gln)
CHEK2 NM_001257387.1 -?/-? - c.52G>C r.(?) p.(Glu18Gln)
CHEK2 NM_007194.3 -?/-? - c.715G>C r.(?) p.(Glu239Gln)
CHEK2 NM_145862.2 -?/-? - c.715G>C r.(?) p.(Glu239Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000839 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou