chr15:40212643:C>T Detail (hg38) (BUB1B)

Information

Genome

Assembly Position
hg19 chr15:40,504,844-40,504,844 View the variant detail on this assembly version.
hg38 chr15:40,212,643-40,212,643

HGVS

Type Transcript Protein
RefSeq NM_001211.5:c.2530C>T NP_001202.4:p.Leu844Phe
Ensemble ENST00000287598.11:c.2530C>T ENST00000287598.11:p.Leu844Phe
ENST00000412359.7:c.2572C>T ENST00000412359.7:p.Leu858Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Uncertain significance
Review star
Show details
Links
Type Database ID Link
Gene MIM 602860 OMIM
HGNC 1149 HGNC
Ensembl ENSG00000156970 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-07-05 criteria provided, single submitter mosaic variegated aneuploidy syndrome 1 germline Detail
Affects 2004-11-01 no assertion criteria provided Premature chromatid separation trait germline Detail
Uncertain significance 2022-01-10 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
Uncertain significance 2022-01-10 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
Uncertain significance 2022-01-10 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 mosaic variegated aneuploidy syndrome NA CLINVAR Detail
0.562 mosaic variegated aneuploidy syndrome Constitutional aneuploidy and cancer predisposition caused by biallelic mutation... UNIPROT 15475955 Detail
0.360 Premature chromatid separation trait NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) AND Mosaic variegated aneuploidy syndrome 1 ClinVar Detail
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) AND Premature chromatid separation trait ClinVar Detail
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) AND multiple conditions ClinVar Detail
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) AND multiple conditions ClinVar Detail
NM_001211.6(BUB1B):c.2530C>T (p.Leu844Phe) AND multiple conditions ClinVar Detail
NA DisGeNET Detail
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs28989181 dbSNP
Genome
hg38
Position
chr15:40,212,643-40,212,643
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8618
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
118840
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.414675193537529E-6
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