RGD:10049421 Rat Genome Database

Variant: RGD:10049421 - Homo sapiens

RGD ID:

10049421

RS ID:

rs147461642

ClinVar ID:

CV190400

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PEX13 PUS10

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	2	61,244,889
GRCh38	2	61,017,754

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	Trait Synonyms
NG_008665.1:g.5078G>C NC_000002.12:g.61017754G>C NC_000002.11:g.61244889G>C NM_144709.4:c.-16+254C>G More...	01/01/2022	5 prime utr variant	benign\|likely benign\|uncertain significance	neonatal	AllHighlyPenetrant; none provided; Peroxisome biogenesis disorder 11A

Disease Annotations Click to see Annotation Detail View

peroxisome biogenesis disorder 11A (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PEX13
Accession:	NM_002618
Location:	5UTRS;EXON

Gene Symbol:	PUS10
Accession:	NM_144709
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	XM_011532568
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	XM_047443481
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	XM_011532574
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	XM_017003428
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	XM_024452720
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	NM_001322127
Location:	5UTRS;INTRON

Gene Symbol:	PUS10
Accession:	NM_001322124
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_011532573
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_011532571
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_011532576
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_011532578
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443477
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443482
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443480
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443479
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443478
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443475
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_011532570
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_017003429
Location:	INTRON

Gene Symbol:	PUS10
Accession:	NM_001322123
Location:	INTRON

Gene Symbol:	PUS10
Accession:	XM_047443476
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000173283	CLINVAR
	RCV000261713	CLINVAR
	RCV001657942	CLINVAR
	RCV003975256	CLINVAR
dbSNP (RS)	rs147461642	CLINVAR
MedGen	C3554000	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	PEX13	CLINVAR
	PUS10	CLINVAR
OMIM	601789	CLINVAR
	612787	CLINVAR
	614883	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:10049421 - Homo sapiens

Imported Disease Annotations - ClinVar