BBS10 Bardet-Biedl syndrome 10

Information
Symbol
BBS10
Type
protein-coding
Description
Bardet-Biedl syndrome 10
Entrez Gene ID
79738
Genome
hg19
Position
chr12:76,738,254-76,742,195
Genome
hg38
Position
chr12:76,344,474-76,348,415
MIM
610148 OMIM
HGNC
HGNC:26291 HGNC
Ensembl
ENSG00000179941 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 282
Likely pathogenic 0 210
Benign 0 36
Likely benign 0 574
Conflicting classifications of pathogenicity 0 76
Uncertain significance 0 610
Ranking
ClinVar
0
0
342
1,234
26
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM C12orf58
MIM 610148 OMIM
HGNC HGNC:26291 HGNC
Ensembl ENSG00000179941 Ensembl
AllianceGenome HGNC:26291
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000650064.2 hg38 chr12 76,344,474 76,348,415 3,942
ENST00000650064.2 hg19 chr12 76,738,254 76,742,195 3,942
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