BSND barttin CLCNK type accessory subunit beta

Information
Symbol
BSND
Type
protein-coding
Description
barttin CLCNK type accessory subunit beta
Entrez Gene ID
7809
Genome
hg19
Position
chr1:55,464,606-55,482,845
Genome
hg38
Position
chr1:54,998,933-55,017,172
MIM
606412 OMIM
HGNC
HGNC:16512 HGNC
Ensembl
ENSG00000162399 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 8 46
Likely pathogenic 0 16
Benign 0 50
Likely benign 0 360
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 172
Ranking
ClinVar
0
0
132
480
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
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 BART
SYNONYM DFNB73
MIM 606412 OMIM
HGNC HGNC:16512 HGNC
Ensembl ENSG00000162399 Ensembl
AllianceGenome HGNC:16512
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000651561.1 hg38 chr1 54,998,933 55,017,172 18,240
ENST00000651561.1 hg19 chr1 55,464,606 55,482,845 18,240
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