Genomic variant #0000012837

Individual ID 00019295
Chromosome 15
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.40462846T>C
Reference -
DB-ID BUB1B_000007 See all 67 reported entries
dbSNP ID rs28989189
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 0.01136
Allele Count 67
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BUB1B NM_001211.5 -/- - c.348T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000333 DNA SEQ-NG-I 1 - 18 Despoina Kalfakakou