chr15:40220641:T>C Detail (hg38) (BUB1B, PAK6, BUB1B-PAK6)

Information

Genome

Assembly Position
hg19 chr15:40,512,842-40,512,842 View the variant detail on this assembly version.
hg38 chr15:40,220,641-40,220,641

HGVS

Type Transcript Protein
RefSeq NM_001211.5:c.3035T>C NP_001202.4:p.Leu1012Pro
Ensemble ENST00000287598.11:c.3035T>C ENST00000287598.11:p.Leu1012Pro
ENST00000412359.7:c.3077T>C ENST00000412359.7:p.Leu1026Pro
Type Transcript Protein
RefSeq NM_001128628.2:c.-201+2974T>C
Ensemble ENST00000441369.6:c.-201+2974T>C
ENST00000453867.7:c.-118+2974T>C
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
Type Database ID Link
Gene MIM 608110 OMIM
HGNC 16061 HGNC
Ensembl ENSG00000137843 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 2023-07-08 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 2022-03-21 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
Uncertain significance 2022-03-21 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
Uncertain significance 2022-03-21 criteria provided, single submitter colorectal cancer,Premature chromatid separation trait,mosaic variegated aneuploidy syndrome 1 unknown Detail
Uncertain significance 2022-12-21 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.562 mosaic variegated aneuploidy syndrome Constitutional aneuploidy and cancer predisposition caused by biallelic mutation... UNIPROT 15475955 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND Mosaic variegated aneuploidy syndrome 1 ClinVar Detail
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND Premature chromatid separation trait ClinVar Detail
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND multiple conditions ClinVar Detail
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND multiple conditions ClinVar Detail
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND multiple conditions ClinVar Detail
NM_001211.6(BUB1B):c.3035T>C (p.Leu1012Pro) AND not specified ClinVar Detail
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B. 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
rs28989185 dbSNP
Genome
hg38
Position
chr15:40,220,641-40,220,641
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8654
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)
121412
Allele Counts in All Race (ExAC)
2
Heterozygous Counts in All Race (ExAC)
2
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
1.6472836292952922E-5
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