rs1578499691 Rat Genome Database

rs1578499691 Rat Genome Database

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Variant: rs1578499691 - Homo sapiens

RGD ID:

15040190

RS ID:

rs1578499691

ClinVar ID:

CV682412

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	4	120,180,987
GRCh38	4	119,259,832

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001389658.1:c.583del NM_001389666.1:c.235del NM_001389667.1:c.235del NM_001389663.1:c.235del More...	12/15/2021	frameshift variant	pathogenic

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV682412	Human	cholestasis		IAGP		8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868\|PMID:32124521
CV682412	Human	Progressive Familial Intrahepatic Cholestasis 7		IAGP		8554872	ClinVar Annotator: match by term: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS	ClinVar	PMID:25741868\|PMID:32124521

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV682412	Human	Cholestasis		IAGP		8554872	ClinVar Annotator: match by term: Cholestasis	ClinVar	PMID:25741868\|PMID:32124521

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:32124521

Database	Acc Id	Source(s)
ClinVar	RCV000856556	CLINVAR
	RCV001796280	CLINVAR
dbSNP (RS)	rs1578499691	CLINVAR
MedGen	C0008370	CLINVAR
	C5562043	CLINVAR
NCBI Gene	USP53	CLINVAR
OMIM	617431	CLINVAR
	619658	CLINVAR
OMIM Allele	617431.0003	CLINVAR