Genomic variant #0000001438

Individual ID 00016136
Chromosome 15
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.40491888A>G
Reference -
DB-ID BUB1B_000004 See all 5 reported entries
dbSNP ID rs373256667
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 0.00087
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
BUB1B NM_001211.5 ?/? - c.1361A>G r.(?) p.(Lys454Arg)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000035 DNA SEQ-NG-I 1 - 9 Despoina Kalfakakou