Genomic variant #0000041970

Individual ID 00022045
Chromosome 15
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.40510662C>T
Reference -
DB-ID BUB1B_000076 See all 12 reported entries
dbSNP ID rs1802286
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 0.00203
Allele Count 12
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BUB1B NM_001211.5 ./. - c.2856C>T r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007542 DNA SEQ-NG-I 1 - 43 Stevi Xera