Variant: rs769677823 

    present in Gene: HERC1
    present in Chromosome: 15
    Position on Chromosome: 63623777
    Alleles of this Variant: C/G;T

rs769677823 in HERC1 gene and MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION PMID 26138117 2015 Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.