Variant: rs104894490 

    present in Gene: NIPA1
    present in Chromosome: 15
    Position on Chromosome: 22812252
    Alleles of this Variant: G/A;C

rs104894490 in NIPA1 gene and SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT (disorder) PMID 15643603 2005 Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families.

PMID 14508710 2003 NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6).

PMID 23850684 2013 A diagnostic gene chip for hereditary spastic paraplegias.

PMID 17928003 2008 Clinical and genetic study of SPG6 mutation in a Chinese family with hereditary spastic paraplegia.

rs104894490 in NIPA1 gene and Spastic Paraplegia, Hereditary PMID 28832565 2017 Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.