RGD:597630282 Rat Genome Database

RGD:597630282 Rat Genome Database

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Variant: RGD:597630282 - Homo sapiens

RGD ID:

597630282

ClinVar ID:

CV3657254

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

COL5A1 LOC101448202

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	9	137,712,045
GRCh38	9	134,820,199

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_737t1:c.4530C>A LRG_737t2:c.4530C>A NM_000093.5:c.4530C>A NM_001278074.1:c.4530C>A More...	11/13/2024	non-coding transcript variant	likely benign	EDS I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; Thoracic aortic aneurysms and dissections

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3657254	Human	Ehlers-Danlos syndrome classic type 1		IAGP		8554872	ClinVar Annotator: match by term: EDS I	ClinVar	PMID:28492532
CV3657254	Human	thoracic aortic aneurysm		IAGP		8554872	ClinVar Annotator: match by term: Thoracic aortic aneurysms and dissections	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV004822594	CLINVAR
	RCV005110145	CLINVAR
MedGen	C0268335	CLINVAR
	C4707243	CLINVAR
NCBI Gene	COL5A1	CLINVAR
	LOC101448202	CLINVAR
OMIM	120215	CLINVAR
	130000	CLINVAR
SNOMED CT	83470009	CLINVAR