RGD:243063903 Rat Genome Database

RGD:243063903 Rat Genome Database

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Variant: RGD:243063903 - Homo sapiens

RGD ID:

243063903

ClinVar ID:

CV2405429

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	3	47,889,895
GRCh38	3	47,848,405

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_014966.4:c.2376+19G>T NM_001330990.2:c.2409+19G>T NM_138615.3:c.2493+19G>T NC_000003.12:g.47848405G>T NC_000003.11:g.47889895G>T More...	09/28/2022	intron variant	uncertain significance	NEURODEVELOPMENTAL DISORDER WITH VARIABLE MOTOR AND LANGUAGE IMPAIRMENT

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2405429	Human	NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE		IAGP		8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with severe motor impairment and absent language	ClinVar	PMID:25741868

Gene Symbol:	DHX30
Accession:	NM_138615
Location:	INTRON

Gene Symbol:	DHX30
Accession:	NM_014966
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_006713033
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_011533494
Location:	INTRON

Gene Symbol:	DHX30
Accession:	NM_001330990
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_024453405
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_047447728
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_047447727
Location:	INTRON

Gene Symbol:	DHX30
Accession:	XM_047447729
Location:	INTRON

Gene Symbol:	DHX30
Accession:	NR_075079
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV003225910	CLINVAR
MedGen	C4540496	CLINVAR
NCBI Gene	DHX30	CLINVAR
OMIM	616423	CLINVAR
	617804	CLINVAR