Variant: rs78300695 

    present in Gene: TREX1;ATRIP-TREX1;ATRIP
    present in Chromosome: 3
    Position on Chromosome: 48466711
    Alleles of this Variant: -/G

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and AICARDI-GOUTIERES SYNDROME 1 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Abnormality of the medulla oblongata PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Abnormality of the periventricular white matter PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Cerebellar Hypoplasia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Cortical gyral simplification PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Hypoplasia of the brainstem PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs78300695 in TREX1;ATRIP-TREX1;ATRIP gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.