Genomic variant #0000040363

Individual ID 00015391
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.29090025G>A
Reference -
DB-ID CHEK2_000095
dbSNP ID -
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 Variant not found in online data sets
Allele Count 0
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.1585C>T r.(?) p.(Leu529Phe)
CHEK2 NM_001257387.1 ?/? - c.793C>T r.(?) p.(Leu265Phe)
CHEK2 NM_007194.3 ?/? - c.1456C>T r.(?) p.(Leu486Phe)
CHEK2 NM_145862.2 ?/? - c.1369C>T r.(?) p.(Leu457Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007036 DNA SEQ-NG 0 - 1 Despoina Kalfakakou