Genomic variant #0000042196

Individual ID 00022050
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.29095854T>C
Reference -
DB-ID CHEK2_000050 See all 2 reported entries
dbSNP ID -
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 0.00034
Allele Count 2
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.1109A>G r.(?) p.(Tyr370Cys)
CHEK2 NM_001257387.1 ./. - c.317A>G r.(?) p.(Tyr106Cys)
CHEK2 NM_007194.3 ./. - c.980A>G r.(?) p.(Tyr327Cys)
CHEK2 NM_145862.2 ./. - c.980A>G r.(?) p.(Tyr327Cys)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007547 DNA SEQ-NG-I 1 - 36 Stevi Xera