Variant: rs587779351 

    present in Gene: XRCC4
    present in Chromosome: 5
    Position on Chromosome: 83105046
    Alleles of this Variant: T/C

rs587779351 in XRCC4 gene and Dwarfism PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and Normal motor development PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and PITUITARY DWARFISM I PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION PMID 25839420 2015 Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability.

PMID 25728776 2015 Mutations in the NHEJ component XRCC4 cause primordial dwarfism.

PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

PMID 26255102 2015 XRCC4 deficiency in human subjects causes a marked neurological phenotype but no overt immunodeficiency.

rs587779351 in XRCC4 gene and Short philtrum PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.

rs587779351 in XRCC4 gene and Speech Delay PMID 24389050 2014 Genomic analysis of primordial dwarfism reveals novel disease genes.