The AMPD1 gene homepage

General information
Gene symbol AMPD1
Gene name adenosine monophosphate deaminase 1
Chromosome 1
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_008012.1
Transcript reference NM_000036.2
Exon/intron information NM_000036.2 exon/intron table
Associated with diseases MMDD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 38
Unique public DNA variants reported 19
Individuals with public variants 367
Hidden variants -
Download all this gene's data Download all data
Notes Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated February 26, 2024
Version AMPD1:240226

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000036.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/AMPD1
HGNC 468
Entrez Gene 270
PubMed articles AMPD1
OMIM - Gene 102770
OMIM - Diseases MMDD (myopathy, due to myoadenylate deaminase deficiency (MMDD))
HGMD AMPD1
GeneCards AMPD1
GeneTests AMPD1
Orphanet AMPD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000154 1 adenosine monophosphate deaminase 1, transcript variant 1 NM_000036.2 NP_000027.2 38


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