AMBN ameloblastin

Information
Symbol
AMBN
Type
protein-coding
Description
ameloblastin
Entrez Gene ID
258
Genome
hg19
Position
chr4:71,457,973-71,473,005
Genome
hg38
Position
chr4:70,592,256-70,607,288
MIM
601259 OMIM
HGNC
HGNC:452 HGNC
Ensembl
ENSG00000178522 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely pathogenic 0 4
Benign 0 24
Likely benign 0 20
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 52
Ranking
ClinVar
0
0
12
82
6
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 AI1F
MIM 601259 OMIM
HGNC HGNC:452 HGNC
Ensembl ENSG00000178522 Ensembl
AllianceGenome HGNC:452
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000322937.10 hg38 chr4 70,592,256 70,607,288 15,033
ENST00000449493.2 hg38 chr4 70,592,295 70,606,879 14,585
ENST00000322937.10 hg19 chr4 71,457,973 71,473,005 15,033
ENST00000449493.2 hg19 chr4 71,458,012 71,472,596 14,585
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