ERMN ermin

Information
Symbol
ERMN
Type
protein-coding
Description
ermin
Entrez Gene ID
57471
Genome
hg19
Position
chr2:158,175,151-158,184,225
Genome
hg38
Position
chr2:157,318,639-157,327,713
MIM
610072 OMIM
HGNC
HGNC:29208 HGNC
Ensembl
ENSG00000136541 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 4
Uncertain significance 0 38
Ranking
ClinVar
0
0
0
44
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 :
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 JN
SYNONYM KIAA1189
MIM 610072 OMIM
HGNC HGNC:29208 HGNC
Ensembl ENSG00000136541 Ensembl
AllianceGenome HGNC:29208
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000420719.6 hg38 chr2 157,321,002 157,325,824 4,823
ENST00000409925.1 hg38 chr2 157,321,739 157,325,659 3,921
ENST00000397283.6 hg38 chr2 157,318,639 157,327,713 9,075
ENST00000409216.5 hg38 chr2 157,321,685 157,325,824 4,140
ENST00000410096.6 hg38 chr2 157,318,631 157,325,824 7,194
ENST00000410096.6 hg19 chr2 158,175,143 158,182,336 7,194
ENST00000397283.6 hg19 chr2 158,175,151 158,184,225 9,075
ENST00000420719.6 hg19 chr2 158,177,514 158,182,336 4,823
ENST00000409216.5 hg19 chr2 158,178,197 158,182,336 4,140
ENST00000409925.1 hg19 chr2 158,178,251 158,182,171 3,921
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