Variant: rs672601372 

    present in Gene: RARS1
    present in Chromosome: 5
    Position on Chromosome: 168486503
    Alleles of this Variant: A/C;G;T

rs672601372 in RARS1 gene and Abnormality of brain morphology PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.

rs672601372 in RARS1 gene and LEUKODYSTROPHY, HYPOMYELINATING, 9 PMID 24777941 2014 Mutations in RARS cause hypomyelination.

PMID 28905880 2017 Mutations in RARS cause a hypomyelination disorder akin to Pelizaeus-Merzbacher disease.