ELMOD3 ELMO domain containing 3

Information
Symbol
ELMOD3
Type
protein-coding
Description
ELMO domain containing 3
Entrez Gene ID
84173
Genome
hg19
Position
chr2:85,581,926-85,618,871
Genome
hg38
Position
chr2:85,354,803-85,391,748
MIM
615427 OMIM
HGNC
HGNC:26158 HGNC
Ensembl
ENSG00000115459 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Benign 0 70
Likely benign 0 122
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 110
Ranking
ClinVar
0
0
62
232
2
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 DFNA81
SYNONYM DFNB88
SYNONYM LST3
SYNONYM RBED1
SYNONYM RBM29
MIM 615427 OMIM
HGNC HGNC:26158 HGNC
Ensembl ENSG00000115459 Ensembl
AllianceGenome HGNC:26158
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000315658.11 hg38 chr2 85,354,803 85,391,748 36,946
ENST00000409344.7 hg38 chr2 85,354,753 85,391,748 36,996
ENST00000409013.8 hg38 chr2 85,354,769 85,391,748 36,980
ENST00000393852.8 hg38 chr2 85,354,757 85,391,748 36,992
ENST00000409890.6 hg38 chr2 85,355,075 85,391,750 36,676
ENST00000315658.11 hg19 chr2 85,581,926 85,618,871 36,946
ENST00000393852.8 hg19 chr2 85,581,880 85,618,871 36,992
ENST00000409013.8 hg19 chr2 85,581,892 85,618,871 36,980
ENST00000409344.7 hg19 chr2 85,581,876 85,618,871 36,996
ENST00000409890.6 hg19 chr2 85,582,198 85,618,873 36,676
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