EMD emerin

Information
Symbol
EMD
Type
protein-coding
Description
emerin
Entrez Gene ID
2010
Genome
hg19
Position
chrX:153,607,655-153,609,883
Genome
hg38
Position
chrX:154,379,295-154,381,523
MIM
300384 OMIM
HGNC
HGNC:3331 HGNC
Ensembl
ENSG00000102119 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 12 144
Likely pathogenic 0 42
Benign 0 48
Likely benign 0 426
Conflicting classifications of pathogenicity 0 88
not provided 8 0
Uncertain significance 0 322
Ranking
ClinVar
0
0
244
682
16
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 EDMD
SYNONYM LEMD5
SYNONYM STA
MIM 300384 OMIM
HGNC HGNC:3331 HGNC
Ensembl ENSG00000102119 Ensembl
AllianceGenome HGNC:3331
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000682114.1 hg38 chrX 154,379,417 154,381,523 2,107
ENST00000683627.1 hg38 chrX 154,379,485 154,381,520 2,036
ENST00000369835.3 hg38 chrX 154,379,273 154,381,291 2,019
ENST00000369842.9 hg38 chrX 154,379,295 154,381,523 2,229
ENST00000369835.3 hg19 chrX 153,607,633 153,609,651 2,019
ENST00000369842.9 hg19 chrX 153,607,655 153,609,883 2,229
ENST00000682114.1 hg19 chrX 153,607,777 153,609,883 2,107
ENST00000683627.1 hg19 chrX 153,607,845 153,609,880 2,036
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