Variant: rs104894351

present in Gene: HSPB8;LOC107984440 present in Chromosome: 12 Position on Chromosome: 119187078 Alleles of this Variant: A/C;G

rs104894351 in HSPB8;LOC107984440 gene and NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIA PMID 28144995 2017 Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.

PMID 15122253 2004 Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy.