BBS1 Bardet-Biedl syndrome 1

Information
Symbol
BBS1
Type
protein-coding
Description
Bardet-Biedl syndrome 1
Entrez Gene ID
582
Genome
hg19
Position
chr11:66,278,106-66,301,069
Genome
hg38
Position
chr11:66,510,635-66,533,598
MIM
209901 OMIM
HGNC
HGNC:966 HGNC
Ensembl
ENSG00000174483 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 1 236
Likely pathogenic 1 210
Benign 0 62
Likely benign 0 898
Conflicting classifications of pathogenicity 0 102
Uncertain significance 2 586
Ranking
ClinVar
0
0
424
1,464
22
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 BBS2L2
MIM 209901 OMIM
HGNC HGNC:966 HGNC
Ensembl ENSG00000174483 Ensembl
AllianceGenome HGNC:966
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000630659.2 hg38 chr11 66,510,655 66,532,219 21,565
ENST00000455748.6 hg38 chr11 66,510,642 66,532,080 21,439
ENST00000318312.12 hg38 chr11 66,510,635 66,533,598 22,964
ENST00000393994.4 hg38 chr11 66,510,655 66,532,219 21,565
ENST00000318312.12 hg19 chr11 66,278,106 66,301,069 22,964
ENST00000455748.6 hg19 chr11 66,278,113 66,299,551 21,439
ENST00000630659.2 hg19 chr11 66,278,126 66,299,690 21,565
ENST00000393994.4 hg19 chr11 66,278,126 66,299,690 21,565
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