rs113090154 Rat Genome Database

rs113090154 Rat Genome Database

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Variant: rs113090154 - Homo sapiens

RGD ID:

8690656

RS ID:

rs113090154

ClinVar ID:

CV140607

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

COL5A1 LOC101448202

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	137,716,440
GRCh38	9	134,824,594

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NM_001278074.1:c.4699-6C>T NG_008030.1:g.187789C>T NC_000009.12:g.134824594C>T NC_000009.11:g.137716440C>T More...	11/24/2020	intron variant	benign\|likely benign	childhood	1-9 / 100 000	AllHighlyPenetrant; ED syndrome; EDS I; EHLERS-DANLOS SYNDROME, GRAVIS TYPE; EHLERS-DANLOS SYNDROME, SEVERE CLASSIC TYPE; Ehlers-Danlos syndrome, type 1; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV140607	Human	Ehlers-Danlos syndrome		IAGP		8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome	ClinVar	PMID:25741868\|PMID:28492532
CV140607	Human	Ehlers-Danlos syndrome arthrochalasia type 1		IAGP		8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome type 7A	ClinVar	PMID:25741868\|PMID:28492532
CV140607	Human	Ehlers-Danlos syndrome classic type 1		IAGP		8554872	ClinVar Annotator: match by term: Ehlers-Danlos syndrome, classic type, 1	ClinVar	PMID:25741868\|PMID:28492532
CV140607	Human	Multifocal Fibromuscular Dysplasia		IAGP		8554872	ClinVar Annotator: match by term: FIBROMUSCULAR DYSPLASIA, MULTIFOCAL	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	COL5A1
Accession:	NM_000093
Location:	INTRON

Gene Symbol:	COL5A1
Accession:	NM_001278074
Location:	INTRON

Gene Symbol:	COL5A1
Accession:	XM_017014266
Location:	INTRON

Gene Symbol:	LOC101448202
Accession:	NR_103451
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000124463	CLINVAR
	RCV000318140	CLINVAR
	RCV000465287	CLINVAR
	RCV001507249	CLINVAR
	RCV001812017	CLINVAR
	RCV002269904	CLINVAR
	RCV002277215	CLINVAR
dbSNP (RS)	rs113090154	CLINVAR
MedGen	C0013720	CLINVAR
	C0268335	CLINVAR
	C3508773	CLINVAR
	C3661900	CLINVAR
	C4225429	CLINVAR
	C5543412	CLINVAR
	CN169374	CLINVAR
NCBI Gene	101448202	CLINVAR
	COL5A1	CLINVAR
OMIM	120215	CLINVAR
	130000	CLINVAR
	619329	CLINVAR
SNOMED CT	398114001	CLINVAR
	83470009	CLINVAR