Genomic variant #0000030185

Individual ID 00016158
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.29092948G>A
Reference -
DB-ID CHEK2_000070
dbSNP ID rs201206424
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.1165C>T r.(?) p.(Arg389Cys)
CHEK2 NM_001257387.1 ?/? - c.373C>T r.(?) p.(Arg125Cys)
CHEK2 NM_007194.3 ?/? - c.1036C>T r.(?) p.(Arg346Cys)
CHEK2 NM_145862.2 ?/? - c.1009-1087C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001666 DNA SEQ-NG-I 1 - 7 Despoina Kalfakakou