Genomic variant #0000003950

Individual ID 00016371
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.29091797G>C
Reference -
DB-ID CHEK2_000002 See all 3 reported entries
dbSNP ID rs587780168
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.1289C>G r.(?) p.(Thr430Ser)
CHEK2 NM_001257387.1 +?/+? - c.497C>G r.(?) p.(Thr166Ser)
CHEK2 NM_007194.3 +?/+? - c.1160C>G r.(?) p.(Thr387Ser)
CHEK2 NM_145862.2 +?/+? - c.1073C>G r.(?) p.(Thr358Ser)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000096 DNA SEQ-NG-I 1 - 8 Despoina Kalfakakou