present in Gene: KRT86
present in Chromosome: 12
Position on Chromosome: 52306270
Alleles of this Variant: G/A
rs121909129 in
KRT86 gene and
Monilethrix
PMID 10504448 1999 Identification of novel mutations in basic hair keratins hHb1 and hHb6 in monilethrix: implications for protein structure and clinical phenotype.
PMID 10469314 1999 Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.
PMID 10594761 1999 Two different mutations in the same codon of a type II hair keratin (hHb6) in patients with monilethrix.
PMID 25557232 2015 Novel KRT83 and KRT86 mutations associated with monilethrix.
PMID 9402962 1997 A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix.