NHLRC1 NHL repeat containing E3 ubiquitin protein ligase 1

Information
Symbol
NHLRC1
Type
protein-coding
Description
NHL repeat containing E3 ubiquitin protein ligase 1
Entrez Gene ID
378884
Genome
hg19
Position
chr6:18,120,671-18,122,908
Genome
hg38
Position
chr6:18,120,440-18,122,677
MIM
608072 OMIM
HGNC
HGNC:21576 HGNC
Ensembl
ENSG00000187566 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 56
Likely pathogenic 0 30
Benign 0 36
Likely benign 0 174
Conflicting classifications of pathogenicity 0 24
not provided 1 0
Uncertain significance 0 394
Ranking
ClinVar
0
0
130
540
8
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 EPM2A
SYNONYM EPM2B
SYNONYM MALIN
SYNONYM MELF2
SYNONYM bA204B7.2
MIM 608072 OMIM
HGNC HGNC:21576 HGNC
Ensembl ENSG00000187566 Ensembl
AllianceGenome HGNC:21576
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000340650.6 hg38 chr6 18,120,440 18,122,677 2,238
ENST00000340650.6 hg19 chr6 18,120,671 18,122,908 2,238
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