BOLA3 bolA family member 3

Information
Symbol
BOLA3
Type
protein-coding
Description
bolA family member 3
Entrez Gene ID
388962
Genome
hg19
Position
chr2:74,362,527-74,375,039
Genome
hg38
Position
chr2:74,135,400-74,147,912
MIM
613183 OMIM
HGNC
HGNC:24415 HGNC
Ensembl
ENSG00000163170 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 8
Likely pathogenic 0 8
Benign 0 32
Likely benign 0 42
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 80
Ranking
ClinVar
0
0
28
130
4
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 MMDS2
MIM 613183 OMIM
HGNC HGNC:24415 HGNC
Ensembl ENSG00000163170 Ensembl
AllianceGenome HGNC:24415
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327428.10 hg38 chr2 74,135,400 74,147,912 12,513
ENST00000295326.4 hg38 chr2 74,135,415 74,147,905 12,491
ENST00000327428.10 hg19 chr2 74,362,527 74,375,039 12,513
ENST00000295326.4 hg19 chr2 74,362,542 74,375,032 12,491
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