Variant Term Annotation Report - Rat Genome Database

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VARIANT - TERM ANNOTATION REPORT

RGD ID:	243051238
Species:	Homo sapiens
RGD Object:	Variant
Symbol:	CV2415770
Name:	NM_001170535.3(ATAD3A):c.1384G>A (p.Ala462Thr)

Acc ID:	DOID:0081396
Term:	neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome
Definition:	A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)
Definition Source(s):	PMID:28549128 "DO" "DO"

Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.

Object Symbol	Qualifier	Evidence	With	Reference	Source	Notes	Original Reference(s)
CV2415770		IAGP		8554872	ClinVar	ClinVar Annotator: match by term: Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal	PMID:25741868

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