UNC50 unc-50 inner nuclear membrane RNA binding protein

Information
Symbol
UNC50
Type
protein-coding
Description
unc-50 inner nuclear membrane RNA binding protein
Entrez Gene ID
25972
Genome
hg19
Position
chr2:99,225,042-99,234,978
Genome
hg38
Position
chr2:98,608,579-98,618,515
MIM
617826 OMIM
HGNC
HGNC:16046 HGNC
Ensembl
ENSG00000115446 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 12
Likely benign 0 2
Uncertain significance 0 26
Ranking
ClinVar
0
0
0
40
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 :
Search word :
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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 GMH1
SYNONYM HSD23
SYNONYM PDLs22
SYNONYM UNCL
SYNONYM URP
MIM 617826 OMIM
HGNC HGNC:16046 HGNC
Ensembl ENSG00000115446 Ensembl
AllianceGenome HGNC:16046
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000409347.5 hg38 chr2 98,608,844 98,618,515 9,672
ENST00000409975.5 hg38 chr2 98,608,579 98,618,515 9,937
ENST00000357765.7 hg38 chr2 98,608,589 98,618,515 9,927
ENST00000409975.5 hg19 chr2 99,225,042 99,234,978 9,937
ENST00000357765.7 hg19 chr2 99,225,052 99,234,978 9,927
ENST00000409347.5 hg19 chr2 99,225,307 99,234,978 9,672
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