Variant: rs104894419 

    present in Gene: LIG4
    present in Chromosome: 13
    Position on Chromosome: 108208829
    Alleles of this Variant: G/A

rs104894419 in LIG4 gene and Decreased antibody level in blood PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs104894419 in LIG4 gene and Dwarfism PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs104894419 in LIG4 gene and Dysmorphic features PMID 26762768 2016 Molecular and immunological characterization of DNA ligase IV deficiency.

PMID 16357942 2006 A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation.

PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 26172957 2015 Novel compound heterozygous DNA ligase IV mutations in an adolescent with a slowly-progressing radiosensitive-severe combined immunodeficiency.

PMID 17345618 2007 Epstein-Barr virus-associated B-cell lymphoma in a patient with DNA ligase IV (LIG4) syndrome.

PMID 26151233 2015 Evaluation of Severe Combined Immunodeficiency and Combined Immunodeficiency Pediatric Patients on the Basis of Cellular Radiosensitivity.

PMID 23372718 2013 Identification of the DNA repair defects in a case of Dubowitz syndrome.

PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

PMID 15333585 2004 Analysis of DNA ligase IV mutations found in LIG4 syndrome patients: the impact of two linked polymorphisms.

rs104894419 in LIG4 gene and LIG4 Syndrome PMID 25239263 2015 Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity.

PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 15333585 2004 Analysis of additional mutational changes in LIG4 syndrome (R580X, R814X and G469E) have led to the identification of a nuclear localization signal in DNA ligase IV and sites impacting upon DNA ligase IV adenylation.

PMID 27612988 2016 Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis.

PMID 24892279 2014 Dubowitz syndrome is a complex comprised of multiple, genetically distinct and phenotypically overlapping disorders.

PMID 27063650 2016 Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals.

PMID 16088910 2005 A patient with mutations in DNA Ligase IV: clinical features and overlap with Nijmegen breakage syndrome.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs104894419 in LIG4 gene and Lymphopenia PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

rs104894419 in LIG4 gene and PITUITARY DWARFISM I PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.

rs104894419 in LIG4 gene and Thrombocytopenia PMID 11779494 2001 DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency.

PMID 24123394 2014 Extreme growth failure is a common presentation of ligase IV deficiency.