RGD:8570470 Rat Genome Database

RGD:8570470 Rat Genome Database

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Variant: RGD:8570470 - Homo sapiens

RGD ID:

8570470

ClinVar ID:

CV48101

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

CYP2U1 CYP2U1-AS1 LOC107986298 LOC127401313

Reference Nucleotide:

GCGCCTCCTGCGT

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	4	108,852,854 - 108,852,867
GRCh38	4	107,931,698 - 107,931,711

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000004.11:g.108852860_108852872del NP_898898.1:p.Leu21fs NC_000004.12:g.107931704_107931716del NG_007961.1:g.5144_5156del NM_183075.3:c.61_73del More...	05/12/2015	frameshift variant	pathogenic	childhood	<1 / 1 000 000	Spastic paraplegia 56, autosomal recessive; SPASTIC PARAPLEGIA 56, AUTOSOMAL RECESSIVE, WITH OR WITHOUT PSEUDOXANTHOMA ELASTICUM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV48101	Human	hereditary spastic paraplegia 56		IAGP		8554872	ClinVar Annotator: match by term: Spastic paraplegia 56, autosomal recessive	ClinVar	PMID:23176821

ClinVar GRCh37	ClinVar GRCh38

PMID:23176821

Database	Acc Id	Source(s)
ClinVar	RCV000032698	CLINVAR
MedGen	C3539507	CLINVAR
NCBI Gene	CYP2U1	CLINVAR
	CYP2U1-AS1	CLINVAR
OMIM	610670	CLINVAR
	615030	CLINVAR
OMIM Allele	610670.0003	CLINVAR