BPHL biphenyl hydrolase like

Information
Symbol
BPHL
Type
protein-coding
Description
biphenyl hydrolase like
Entrez Gene ID
670
Genome
hg19
Position
chr6:3,118,945-3,153,812
Genome
hg38
Position
chr6:3,118,711-3,153,578
MIM
603156 OMIM
HGNC
HGNC:1094 HGNC
Ensembl
ENSG00000137274 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
Uncertain significance 0 34
Ranking
ClinVar
0
0
0
42
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 BPH-RP
SYNONYM MCNAA
SYNONYM VACVASE
MIM 603156 OMIM
HGNC HGNC:1094 HGNC
Ensembl ENSG00000137274 Ensembl
AllianceGenome HGNC:1094
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000434640.5 hg38 chr6 3,118,374 3,152,575 34,202
ENST00000380368.6 hg38 chr6 3,118,808 3,138,083 19,276
ENST00000380379.10 hg38 chr6 3,118,711 3,153,578 34,868
ENST00000380375.4 hg38 chr6 3,119,326 3,152,669 33,344
ENST00000434640.5 hg19 chr6 3,118,608 3,152,809 34,202
ENST00000380379.10 hg19 chr6 3,118,945 3,153,812 34,868
ENST00000380368.6 hg19 chr6 3,119,042 3,138,317 19,276
ENST00000380375.4 hg19 chr6 3,119,560 3,152,903 33,344
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