RGD:8568163 Rat Genome Database

Variant: RGD:8568163 - Homo sapiens

RGD ID:

8568163

RS ID:

rs188343279

ClinVar ID:

CV39134

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CLASP1 CLASP1-AS1 RNU4ATAC

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	122,288,506
GRCh38	2	121,530,930

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000002.12:g.121530930G>A NM_001142273.2:c.196-605C>T NM_001207051.2:c.196-605C>T NM_015282.3:c.196-605C>T More...	06/25/2021	intron variant\|non-coding transcript variant	pathogenic\|likely pathogenic	neonatal/infancy	<1 / 1 000 000	Brachymelic primordial dwarfism; Cephaloskeletal dysplasia; Epiphyseal dysplasia, microcephaly and nystagmus; Low-birth-weight dwarfism with skeletal dysplasia; Lowry-Wood syndrome; Microcephalic osteodysplastic primordial dwarfism type 1; Microcephalic Osteodysplastic Primordial Dwarfism, Type I; MOPD 1; MOPD I; none provided; Osteodysplastic primordial dwarfism type I; Roifman syndrome; Spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency; SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY; Taybi Linder syndrome

Disease Annotations Click to see Annotation Detail View

Lowry Wood Syndrome (IAGP)

microcephalic osteodysplastic primordial dwarfism type I (IAGP)

Roifman Syndrome (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RNU4ATAC
Accession:	NR_023343
Location:	EXON;NON-CODING

Gene Symbol:	CLASP1
Accession:	XM_047443784
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443785
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_017003665
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443781
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443789
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443780
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001142274
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001142273
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443797
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443793
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_015282
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_006712383
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_006712381
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443791
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_011510849
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_011510848
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_017003682
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443786
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001207051
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_017003690
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001378005
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443796
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443787
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443779
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_006712382
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_017003673
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443795
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443788
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443783
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443792
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443777
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001378004
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001378003
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	NM_001395891
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443782
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443778
Location:	INTRON

Gene Symbol:	CLASP1
Accession:	XM_047443794
Location:	INTRON

Gene Symbol:	CLASP1-AS1
Accession:	XR_001739683
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:21474760	PMID:21474761	PMID:21977988	PMID:25741868	PMID:26522830	PMID:28492532	PMID:29265708	PMID:30368667	PMID:32628740

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000023096	CLINVAR
	RCV000202312	CLINVAR
	RCV001255662	CLINVAR
	RCV001596939	CLINVAR
	RCV002482901	CLINVAR
	RCV003415730	CLINVAR
dbSNP (RS)	rs188343279	CLINVAR
MedGen	C0796021	CLINVAR
	C1846059	CLINVAR
	C1859452	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CLASP1	CLINVAR
	RNU4ATAC	CLINVAR
OMIM	210710	CLINVAR
	226960	CLINVAR
	601428	CLINVAR
	605852	CLINVAR
	616651	CLINVAR
OMIM Allele	601428.0001	CLINVAR
SNOMED CT	254102008	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:8568163 - Homo sapiens

Imported Disease Annotations - ClinVar