Variant: rs1553693712 

    present in Gene: BRPF1
    present in Chromosome: 3
    Position on Chromosome: 9734167
    Alleles of this Variant: TT/-

rs1553693712 in BRPF1 gene and Dysmorphic features PMID 27939639 2017 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

PMID 27939640 2017 Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.

rs1553693712 in BRPF1 gene and Muscle hypotonia PMID 27939639 2017 Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.

PMID 27939640 2017 Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation.