Variant: rs1114167445 

    present in Gene: SPTBN4
    present in Chromosome: 19
    Position on Chromosome: 40504064
    Alleles of this Variant: C/T

rs1114167445 in SPTBN4 gene and Abnormal auditory evoked potential PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Absent reflex PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Acid reflux PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Byzanthine arch palate PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Decreased nerve conduction velocity PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Facial muscle weakness of muscles innervated by CN VII PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Gastrostomy tube feeding in infancy PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Global developmental delay PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Increased variability in muscle fiber diameter PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Muscle Weakness PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Poor head control PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Pupillary Functions, Abnormal PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Scoliosis, unspecified PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

rs1114167445 in SPTBN4 gene and Severe muscular hypotonia PMID 28540413 2017 A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.