ADAM30 ADAM metallopeptidase domain 30

Information
Symbol
ADAM30
Type
protein-coding
Description
ADAM metallopeptidase domain 30
Entrez Gene ID
11085
Genome
hg19
Position
chr1:120,436,156-120,439,138
Genome
hg38
Position
chr1:119,893,533-119,896,515
MIM
604779 OMIM
HGNC
HGNC:208 HGNC
Ensembl
ENSG00000134249 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 8
Uncertain significance 0 76
Ranking
ClinVar
0
0
0
84
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 svph4
MIM 604779 OMIM
HGNC HGNC:208 HGNC
Ensembl ENSG00000134249 Ensembl
AllianceGenome HGNC:208
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369400.2 hg38 chr1 119,893,533 119,896,515 2,983
ENST00000369400.2 hg19 chr1 120,436,156 120,439,138 2,983
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