rs11046589 Rat Genome Database

rs11046589 Rat Genome Database

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Variant: rs11046589 - Homo sapiens

RGD ID:

12839826

RS ID:

rs11046589

ClinVar ID:

CV375428

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	8,808,006
GRCh38	12	8,655,410

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_041814.1:g.12479A>G NC_000012.12:g.8655410T>C NC_000012.11:g.8808006T>C NM_001297710.2:c.136+5A>G More...	02/01/2024	intron variant	benign	AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV375428	Human	Familial Thoracic Aortic Aneurysm 9		IAGP		8554872	ClinVar Annotator: match by term: Aortic aneurysm, familial thoracic 9	ClinVar	PMID:25741868\|PMID:28492532

Gene Symbol:	MFAP5
Accession:	NM_001297711
Location:	INTRON

Gene Symbol:	MFAP5
Accession:	NM_003480
Location:	INTRON

Gene Symbol:	MFAP5
Accession:	NM_001297710
Location:	INTRON

Gene Symbol:	MFAP5
Accession:	NM_001297712
Location:	INTRON

Gene Symbol:	MFAP5
Accession:	NM_001297709
Location:	INTRON

Gene Symbol:	MFAP5
Accession:	NR_123734
Location:	INTRON;NON-CODING

Gene Symbol:	MFAP5
Accession:	NR_123733
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000429550	CLINVAR
	RCV001775794	CLINVAR
	RCV002062402	CLINVAR
	RCV002411320	CLINVAR
dbSNP (RS)	rs11046589	CLINVAR
MedGen	C3661900	CLINVAR
	C4015368	CLINVAR
	CN169374	CLINVAR
	CN230736	CLINVAR
NCBI Gene	MFAP5	CLINVAR
OMIM	601103	CLINVAR
	616166	CLINVAR