Variant: rs1555889162 

    present in Gene: KCNB1;LOC105372649
    present in Chromosome: 20
    Position on Chromosome: 49374931
    Alleles of this Variant: G/A;C

rs1555889162 in KCNB1;LOC105372649 gene and Cerebellar Ataxia PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs1555889162 in KCNB1;LOC105372649 gene and EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 28806457 2017 Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.

rs1555889162 in KCNB1;LOC105372649 gene and Global developmental delay PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

rs1555889162 in KCNB1;LOC105372649 gene and Low CSF 5-methyltetrahydrofolate PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

rs1555889162 in KCNB1;LOC105372649 gene and Seizures PMID 28252636 2017 The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.

PMID 29264397 2017 Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.