Variant: rs184953805 

    present in Gene: ATRIP;TREX1;ATRIP-TREX1
    present in Chromosome: 3
    Position on Chromosome: 48467284
    Alleles of this Variant: G/A

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.

rs184953805 in ATRIP;TREX1;ATRIP-TREX1 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.