The GAMT gene homepage

General information
Gene symbol GAMT
Gene name guanidinoacetate N-methyltransferase
Chromosome 19
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_009785.1
Transcript reference NM_000156.5
Exon/intron information NM_000156.5 exon/intron table
Associated with diseases CCDS, CCDS2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Gajja Salomons and Eric Wever
Total number of public variants reported 320
Unique public DNA variants reported 70
Individuals with public variants 178
Hidden variants 52
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 07, 2009
Date last updated April 19, 2024
Version GAMT:240419

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_000156.5.
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 http://www.LOVD.nl/GAMT
HGNC 4136
Entrez Gene 2593
PubMed articles GAMT
OMIM - Gene 601240
OMIM - Diseases CCDS2 (GAMTD)
HGMD GAMT
GeneCards GAMT
GeneTests GAMT
Orphanet GAMT


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024200 19 transcript variant 1 NM_000156.5 NP_000147.1 320


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