Genomic variant #0000038156

Individual ID 00015324
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.29130471G>T
Reference -
DB-ID CHEK2_000027 See all 2 reported entries
dbSNP ID rs876659006
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.239C>A r.(?) p.(Pro80His)
CHEK2 NM_001257387.1 -?/-? - c.-539C>A r.(=) p.(=)
CHEK2 NM_007194.3 -?/-? - c.239C>A r.(?) p.(Pro80His)
CHEK2 NM_145862.2 -?/-? - c.239C>A r.(?) p.(Pro80His)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000005629 DNA SEQ-NG-I 1 - 1 Despoina Kalfakakou