Variant: rs549574673

present in Gene: LONP1 present in Chromosome: 19 Position on Chromosome: 5694879 Alleles of this Variant: C/T

rs549574673 in LONP1 gene and CODAS syndrome PMID 25808063 2015 Mutations in LONP1, a mitochondrial matrix protease, cause CODAS syndrome.

PMID 25574826 2015 CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon protease.