AMPD1 adenosine monophosphate deaminase 1

Information
Symbol
AMPD1
Type
protein-coding
Description
adenosine monophosphate deaminase 1
Entrez Gene ID
270
Genome
hg19
Position
chr1:115,215,719-115,238,167
Genome
hg38
Position
chr1:114,673,098-114,695,546
MIM
102770 OMIM
HGNC
HGNC:468 HGNC
Ensembl
ENSG00000116748 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely pathogenic 0 2
Benign 12 82
Likely benign 0 262
Conflicting classifications of pathogenicity 0 54
Conflicting classifications of pathogenicity; other 0 4
Uncertain significance 0 576
Ranking
ClinVar
0
0
132
784
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
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 MAD
SYNONYM MADA
SYNONYM MMDD
MIM 102770 OMIM
HGNC HGNC:468 HGNC
Ensembl ENSG00000116748 Ensembl
AllianceGenome HGNC:468
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369538.4 hg38 chr1 114,673,101 114,695,618 22,518
ENST00000520113.7 hg38 chr1 114,673,098 114,695,546 22,449
ENST00000520113.7 hg19 chr1 115,215,719 115,238,167 22,449
ENST00000369538.4 hg19 chr1 115,215,722 115,238,239 22,518
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