The MMADHC gene homepage

General information
Gene symbol MMADHC
Gene name methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria
Chromosome 2
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_009189.1
Transcript reference NM_015702.2
Associated with diseases ID, aciduria, methylmalonic, and homocystinuria, cblD type
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 16
Unique public DNA variants reported 14
Individuals with public variants 3
Hidden variants 0
Date created May 03, 2013
Date last updated September 17, 2021
Version MMADHC:210917

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 25221
Entrez Gene 27249
PubMed articles MMADHC
OMIM - Gene 611935
OMIM - Diseases aciduria, methylmalonic, and homocystinuria, cblD type
Orphanet MMADHC


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00013704 2 methylmalonic aciduria (cobalamin deficiency) cblD type, with homocystinuria NM_015702.2 NP_056517.1 16


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