chr15:40217543:T>C Detail (hg38) (BUB1B, PAK6)

Information

Genome

Assembly Position
hg19 chr15:40,509,744-40,509,744 View the variant detail on this assembly version.
hg38 chr15:40,217,543-40,217,543

HGVS

Type Transcript Protein
RefSeq NM_001211.5:c.2726T>C NP_001202.4:p.Ile909Thr
Ensemble ENST00000287598.11:c.2726T>C ENST00000287598.11:p.Ile909Thr
ENST00000412359.7:c.2768T>C ENST00000412359.7:p.Ile923Thr
Type Transcript Protein
RefSeq NM_001128628.2:c.-325T>C
Ensemble ENST00000441369.6:c.-325T>C
ENST00000453867.7:c.-242T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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
[No Data.]
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
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
rs28989184 dbSNP
Genome
hg38
Position
chr15:40,217,543-40,217,543
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser