RGD:402507219 Rat Genome Database

RGD:402507219 Rat Genome Database

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Variant: RGD:402507219 - Homo sapiens

RGD ID:

402507219

ClinVar ID:

CV2912468

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ILK TAF10

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	11	6,631,153
GRCh38	11	6,609,922

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_006284.4:c.*1000A>G NM_001278442.2:c.577-14T>C NM_001278441.2:c.796-14T>C NM_001014794.3:c.979-14T>C More...	08/08/2023	3 prime utr variant	likely benign	Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2912468	Human	familial hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Primary familial hypertrophic cardiomyopathy	ClinVar	PMID:28492532

Gene Symbol:	TAF10
Accession:	NM_006284
Location:	3UTRS;EXON

Gene Symbol:	ILK
Accession:	NM_004517
Location:	INTRON

Gene Symbol:	ILK
Accession:	NM_001014794
Location:	INTRON

Gene Symbol:	ILK
Accession:	NM_001014795
Location:	INTRON

Gene Symbol:	ILK
Accession:	NM_001278441
Location:	INTRON

Gene Symbol:	ILK
Accession:	NM_001278442
Location:	INTRON

Gene Symbol:	ILK
Accession:	XM_005252904
Location:	INTRON

Gene Symbol:	ILK
Accession:	XM_011520065
Location:	INTRON

Gene Symbol:	ILK
Accession:	XM_024448499
Location:	INTRON

Gene Symbol:	ILK
Accession:	XM_024448498
Location:	INTRON

Gene Symbol:	ILK
Accession:	XM_047426885
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003509407	CLINVAR
MedGen	C0949658	CLINVAR
NCBI Gene	ILK	CLINVAR
	TAF10	CLINVAR
OMIM	192600	CLINVAR
	600475	CLINVAR
	602366	CLINVAR
SNOMED CT	83978005	CLINVAR