present in Gene: SLC25A4
present in Chromosome: 4
Position on Chromosome: 185144891
Alleles of this Variant: G/A
rs886041081 in
SLC25A4 gene and
Dysmorphic features
PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
rs886041081 in
SLC25A4 gene and
Muscle hypotonia
PMID 27693233 2016 Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.