U.S. flag

An official website of the United States government

Format
Sort by
Choose Destination

Links from MedGen

Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ECHDC1
Microsatellite
(intron variant)
Deficiency of butyryl-CoA dehydrogenase
GLikely pathogenic
ECHDC1
(M130T +2 more)
Single nucleotide variant
(missense variant +1 more)
Deficiency of butyryl-CoA dehydrogenase
GLikely pathogenic
ECHDC1
Indel
(splice acceptor variant)
Deficiency of butyryl-CoA dehydrogenase
GLikely pathogenic
Format
Sort by
Choose Destination