BSPH1 binder of sperm protein homolog 1

Information
Symbol
BSPH1
Type
protein-coding
Description
binder of sperm protein homolog 1
Entrez Gene ID
100131137
Genome
hg19
Position
chr19:48,471,303-48,495,427
Genome
hg38
Position
chr19:47,968,046-47,992,170
MIM
612213 OMIM
HGNC
HGNC:33906 HGNC
Ensembl
ENSG00000188334 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Uncertain significance 0 24
Ranking
ClinVar
0
0
0
24
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 BSP1
SYNONYM ELSPBP2
MIM 612213 OMIM
HGNC HGNC:33906 HGNC
Ensembl ENSG00000188334 Ensembl
AllianceGenome HGNC:33906
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000344839.3 hg38 chr19 47,968,046 47,992,170 24,125
ENST00000344839.3 hg19 chr19 48,471,303 48,495,427 24,125
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