ENAM enamelin

Information
Symbol
ENAM
Type
protein-coding
Description
enamelin
Entrez Gene ID
10117
Genome
hg19
Position
chr4:71,494,461-71,512,541
Genome
hg38
Position
chr4:70,628,744-70,646,824
MIM
606585 OMIM
HGNC
HGNC:3344 HGNC
Ensembl
ENSG00000132464 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 12
Benign 0 54
Likely benign 0 36
Conflicting classifications of pathogenicity 0 14
Uncertain significance 0 254
Ranking
ClinVar
0
0
24
330
14
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 ADAI
SYNONYM AI1C
SYNONYM AIH2
MIM 606585 OMIM
HGNC HGNC:3344 HGNC
Ensembl ENSG00000132464 Ensembl
AllianceGenome HGNC:3344
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396073.4 hg38 chr4 70,628,744 70,646,824 18,081
ENST00000396073.4 hg19 chr4 71,494,461 71,512,541 18,081
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