chr15:40510707:A>T Detail (hg19) (BUB1B, PAK6, BUB1B-PAK6)

Information

Genome

Assembly Position
hg19 chr15:40,510,707-40,510,707
hg38 chr15:40,218,506-40,218,506 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001211.5:c.2901A>T NP_001202.4:p.Glu967Asp
Ensemble ENST00000412359.7:c.2943A>T ENST00000412359.7:p.Glu981Asp
ENST00000287598.11:c.2901A>T ENST00000287598.11:p.Glu967Asp
Type Transcript Protein
RefSeq NM_001128628.2:c.-201+839A>T
Ensemble ENST00000441369.6:c.-201+839A>T
ENST00000453867.7:c.-118+839A>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

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 tgv52625715 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 tgv52625715 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2022-12-16 criteria provided, single submitter mosaic variegated aneuploidy syndrome 1 germline Detail
Uncertain significance 2021-09-22 criteria provided, single submitter Inborn genetic diseases germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) AND Mosaic variegated aneuploidy syndrome 1 ClinVar Detail
NM_001211.6(BUB1B):c.2901A>T (p.Glu967Asp) AND Inborn genetic diseases ClinVar 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
rs762290287 dbSNP
Genome
hg19
Position
chr15:40,510,707-40,510,707
Variant Type
snv
Reference Allele
A
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs762290287
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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