present in Gene: LOC105371749;ZNHIT3
present in Chromosome: 17
Position on Chromosome: 36486940
Alleles of this Variant: C/T
rs148890852 in
LOC105371749;ZNHIT3 gene and
PEHO syndrome
PMID 28335020 2017 By combining homozygosity mapping in Finnish families with Sanger sequencing of positional candidate genes and with exome sequencing a homozygous missense substitution of leucine for serine at codon 31 in ZNHIT3 was identified as the primary cause of PEHO syndrome.