Genomic variant #0000020362

Individual ID 00016956
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.29085075G>T
Reference -
DB-ID CHEK2_000028 See all 5 reported entries
dbSNP ID rs4035546
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 0.00086
Allele Count 5
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.1671+48C>A r.(=) p.(=)
CHEK2 NM_001257387.1 -?/-? - c.879+48C>A r.(=) p.(=)
CHEK2 NM_007194.3 -?/-? - c.1542+48C>A r.(=) p.(=)
CHEK2 NM_145862.2 -?/-? - c.1455+48C>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000724 DNA SEQ-NG-I 1 - 17 Despoina Kalfakakou