Genomic variant #0000030399

Individual ID 00021902
Chromosome 22
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.29130576G>A
Reference -
DB-ID CHEK2_000071
dbSNP ID rs558321010
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.134C>T r.(?) p.(Thr45Met)
CHEK2 NM_001257387.1 ?/? - c.-644C>T r.(=) p.(=)
CHEK2 NM_007194.3 ?/? - c.134C>T r.(?) p.(Thr45Met)
CHEK2 NM_145862.2 ?/? - c.134C>T r.(?) p.(Thr45Met)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001687 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou