Description
methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria [Source:HGNC Symbol;Acc:24525]
Gene Synonyms
DKFZP564I122, RP11-291L19.3, cblC
Location
Chromosome 1: 45,965,725-45,976,739 forward strand.
GRCh37:CM000663.1
About this gene
This gene has 2 transcripts (splice variants) and is associated with 5 phenotypes.
Transcripts
