rs535741597 Rat Genome Database

rs535741597 Rat Genome Database

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Variant: rs535741597 - Homo sapiens

RGD ID:

13466367

RS ID:

rs535741597

ClinVar ID:

CV465183

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

Reference Nucleotide:

-

Variant Nucleotide:

AAGA

Position

Assembly	Chr	Position
GRCh37	15	50,786,480
GRCh38	15	50,494,283

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000015.10:g.50494285_50494288dup NM_005154.4:c.2658+5_2658+8dupGAAA NM_001283049.2:c.2340+5_2340+8dup NM_001128610.3:c.2658+5_2658+8dup More...	01/18/2024	intron variant	likely benign\|uncertain significance	Familial spastic paraparesis; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV465183	Human	hereditary spastic paraplegia		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000550889	CLINVAR
	RCV001356127	CLINVAR
dbSNP (RS)	rs535741597	CLINVAR
MedGen	C0037773	CLINVAR
	C3661900	CLINVAR
NCBI Gene	USP50	CLINVAR
	USP8	CLINVAR
OMIM	603158	CLINVAR
	620563	CLINVAR
SNOMED CT	39912006	CLINVAR