Genomic variant #0000043602

Individual ID 00022094
Chromosome 22
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.29091840T>C
Reference -
DB-ID CHEK2_000101 See all 13 reported entries
dbSNP ID rs74751600
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00218
Allele Count 13
Allele Number 5952
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
CHEK2 NM_001005735.1 ./. - c.1246A>G r.(?) p.(Lys416Glu)
CHEK2 NM_001257387.1 ./. - c.454A>G r.(?) p.(Lys152Glu)
CHEK2 NM_007194.3 ./. - c.1117A>G r.(?) p.(Lys373Glu)
CHEK2 NM_145862.2 ./. - c.1030A>G r.(?) p.(Lys344Glu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007592 DNA SEQ-NG-I 1 - 48 Stevi Xera