Variant: rs587777744 

    present in Gene: TRMT10A
    present in Chromosome: 4
    Position on Chromosome: 99553814
    Alleles of this Variant: C/T

rs587777744 in TRMT10A gene and MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 PMID 25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

PMID 26535115 2015 Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

PMID 26526202 2016 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.

PMID 24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

rs587777744 in TRMT10A gene and Muscle hypotonia PMID 25053765 2014 TRMT10A dysfunction is associated with abnormalities in glucose homeostasis, short stature and microcephaly.

PMID 24204302 2013 tRNA methyltransferase homolog gene TRMT10A mutation in young onset diabetes and primary microcephaly in humans.

PMID 26297882 2015 Homozygous deletion of TRMT10A as part of a contiguous gene deletion in a syndrome of failure to thrive, delayed puberty, intellectual disability and diabetes mellitus.

PMID 26535115 2015 Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities.

PMID 26526202 2016 tRNA methyltransferase homologue gene TRMT10A mutation in young adult-onset diabetes with intellectual disability, microcephaly and epilepsy.