rs372282873 Rat Genome Database

rs372282873 Rat Genome Database

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Variant: rs372282873 - Homo sapiens

RGD ID:

26901542

RS ID:

rs372282873

ClinVar ID:

CV830666

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127404708 NKX2-5

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	172,659,912
GRCh38	5	173,232,909

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001166176.2:c.434C>G NM_001166175.2:c.588C>G NM_004387.4:c.635C>G NG_013340.1:g.7404C>G More...	07/26/2021	3 prime utr variant	uncertain significance	ASD WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; ATRIAL SEPTAL DEFECT 7 WITH ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect 7 with or without atrioventricular conduction defects; ATRIAL SEPTAL DEFECT 7 WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS; Atrial septal defect with atrioventricular conduction defects; Atrial septal defect with atrioventricular conduction defects, somatic; Atrial septal defect-atrioventricular conduction defects syndrome; Conotruncal cardiac defects; Conotruncal heart malformations; Fallot tetralogy; Hypoplastic left heart syndrome 2; Hypothyroidism, congenital, nongoitrous, 5; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tetralogy of Fallot; Ventricular septal defect 3

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV830666	Human	atrial heart septal defect 7		IAGP		8554872	ClinVar Annotator: match by term: Atrial septal defect 7 with or without atrioventricular conduction defects	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	Atrial Septal Defect with Atrioventricular Conduction Defects		IAGP		8554872	ClinVar Annotator: match by term: Atrial septal defect with atrioventricular conduction defects	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	congenital nongoitrous hypothyroidism 5		IAGP		8554872	ClinVar Annotator: match by term: Hypothyroidism more ...	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	Conotruncal Cardiac Defects		IAGP		8554872	ClinVar Annotator: match by term: Conotruncal cardiac defects	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	Hypoplastic Left Heart Syndrome 2		IAGP		8554872	ClinVar Annotator: match by term: Hypoplastic left heart syndrome 2	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	tetralogy of Fallot		IAGP		8554872	ClinVar Annotator: match by term: Fallot tetralogy	ClinVar	PMID:25741868 and PMID:28492532
CV830666	Human	Ventricular Septal Defect 3		IAGP		8554872	ClinVar Annotator: match by term: Ventricular septal defect 3	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV830666	Human	Tetralogy of Fallot		IAGP		8554872	ClinVar Annotator: match by term: Tetralogy of Fallot	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	NKX2-5
Accession:	NM_001166176
Location:	3UTRS;EXON

Gene Symbol:	NKX2-5
Accession:	NM_001166175
Location:	3UTRS;EXON

Gene Symbol:	NKX2-5
Accession:	NM_004387
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	212

Amino Acid Sequence (Calculated using NCBI transcript definition)
MFPSPALTPTPFSVKDILNLEQQQRSLAAAGELSARLEATLAPSSCMLAAFKPEAYAGPEAAAPGLPELRAELGRAPSPA KCASAFPAAPAFYPRAYSDPDPAKDPRAEKKELCALQKAVELEKTEADNAERPRARRRRKPRVLFSQAQVYELERRFKQQ RYLSAPERDQLASVLKLTSTQVKIWFQNRRYKCKRQRQDQTLELVGLPPPPRPPARRIAVPVLVRDGKPCLGDSAPYAPA YGVGLNPYGYNAYPAYPGYGGAACSPGYSCTAAYPAGPSPAQPATAAANNNFVNFGVGDLNAVQSPGIPQSNSGVSTLHG IRAW*

Gene Symbol:	NKX2-5
Accession:	XM_017009071
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001068644	CLINVAR
	RCV001593249	CLINVAR
	RCV002482121	CLINVAR
	RCV004639456	CLINVAR
dbSNP (RS)	rs372282873	CLINVAR
MedGen	C3276096	CLINVAR
	C3661900	CLINVAR
	CN230736	CLINVAR
NCBI Gene	NKX2-5	CLINVAR
OMIM	108900	CLINVAR
	187500	CLINVAR
	217095	CLINVAR
	225250	CLINVAR
	600584	CLINVAR
	614432	CLINVAR
	614435	CLINVAR
SNOMED CT	86299006	CLINVAR