Database of Pathogenic Variants
Home
Variants
Diseases
Genes
About
Gene Detail
Gene Symbol
ABCD1
Gene:215
HGNC:61
Gene Name
ATP binding cassette subfamily D member 1
Chromosome
X
Cytogenetic Band
q28
RefSeq Accession
NM_000033
Associated Diseases
3-ketothiolase deficiency
Associated Variants
NM_000033.3:c.1768C>T