Variant: rs1553654413 

    present in Gene: ITPR1
    present in Chromosome: 3
    Position on Chromosome: 4627877
    Alleles of this Variant: CGTA/-

rs1553654413 in ITPR1 gene and Generalized hypotonia PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1553654413 in ITPR1 gene and Gillespie syndrome PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1553654413 in ITPR1 gene and Moderate intellectual disability PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.

rs1553654413 in ITPR1 gene and Nonprogressive cerebellar ataxia PMID 29663667 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome.