BEST3 bestrophin 3

Information
Symbol
BEST3
Type
protein-coding
Description
bestrophin 3
Entrez Gene ID
144453
Genome
hg19
Position
chr12:70,047,389-70,093,083
Genome
hg38
Position
chr12:69,653,609-69,699,303
MIM
607337 OMIM
HGNC
HGNC:17105 HGNC
Ensembl
ENSG00000127325 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 6
Uncertain significance 0 64
Ranking
ClinVar
0
0
0
74
0
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 :
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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 VMD2L3
MIM 607337 OMIM
HGNC HGNC:17105 HGNC
Ensembl ENSG00000127325 Ensembl
AllianceGenome HGNC:17105
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266661.8 hg38 chr12 69,683,239 69,699,476 16,238
ENST00000476098.5 hg38 chr12 69,669,679 69,699,351 29,673
ENST00000551160.5 hg38 chr12 69,684,408 69,699,395 14,988
ENST00000330891.10 hg38 chr12 69,653,609 69,699,303 45,695
ENST00000331471.8 hg38 chr12 69,643,554 69,699,361 55,808
ENST00000488961.5 hg38 chr12 69,653,609 69,689,276 35,668
ENST00000553096.5 hg38 chr12 69,653,819 69,699,285 45,467
ENST00000331471.8 hg19 chr12 70,037,334 70,093,141 55,808
ENST00000488961.5 hg19 chr12 70,047,389 70,083,056 35,668
ENST00000330891.10 hg19 chr12 70,047,389 70,093,083 45,695
ENST00000553096.5 hg19 chr12 70,047,599 70,093,065 45,467
ENST00000476098.5 hg19 chr12 70,063,459 70,093,131 29,673
ENST00000266661.8 hg19 chr12 70,077,019 70,093,256 16,238
ENST00000551160.5 hg19 chr12 70,078,188 70,093,175 14,988
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