Variant: rs57419521 

    present in Gene: KRT81;KRT86
    present in Chromosome: 12
    Position on Chromosome: 52287112
    Alleles of this Variant: C/T

rs57419521 in KRT81;KRT86 gene and Monilethrix PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.

PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.

PMID 9665406 1998 A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.