BBS5 Bardet-Biedl syndrome 5

Information
Symbol
BBS5
Type
protein-coding
Description
Bardet-Biedl syndrome 5
Entrez Gene ID
129880
Genome
hg19
Position
chr2:170,336,004-170,363,165
Genome
hg38
Position
chr2:169,479,494-169,506,655
MIM
603650 OMIM
HGNC
HGNC:970 HGNC
Ensembl
ENSG00000163093 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 76
Likely pathogenic 0 43
Benign 0 66
Likely benign 0 298
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 224
Ranking
ClinVar
0
0
114
559
12
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
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
MIM 603650 OMIM
HGNC HGNC:970 HGNC
Ensembl ENSG00000163093 Ensembl
AllianceGenome HGNC:970
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000392663.6 hg38 chr2 169,479,483 169,506,655 27,173
ENST00000295240.8 hg38 chr2 169,479,494 169,506,655 27,162
ENST00000392663.6 hg19 chr2 170,335,993 170,363,165 27,173
ENST00000295240.8 hg19 chr2 170,336,004 170,363,165 27,162
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