RGD:13495275 Rat Genome Database

Variant: RGD:13495275 - Homo sapiens

RGD ID:

13495275

RS ID:

rs576783493

ClinVar ID:

CV447906

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

ACTN2

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	236,918,395
GRCh38	1	236,755,095

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000001.11:g.236755095A>T NC_000001.10:g.236918395A>T NP_001094.1:p.Asn684Ile NM_001278343.2:c.2051A>T More...	07/12/2022	missense variant	likely benign\|uncertain significance	Cardiomyopathies; CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 23, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; Hereditary ventricular hypertrophy; Idiopathic hypertrophic subaortic stenosis; none provided; Primary familial hypertrophic cardiomyopathy

Disease Annotations Click to see Annotation Detail View

cardiomyopathy (IAGP)

dilated cardiomyopathy 1AA (IAGP)

familial hypertrophic cardiomyopathy (IAGP)

hypertrophic cardiomyopathy 1 (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Cardiomyopathy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	ACTN2
Accession:	NM_001103
Location:	EXON
Amino Acid Prediction:	N to I (nonsynonymous)
Amino Acid Position:	684

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVIS GERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLW CQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDIVNTPKP DERAIMTYVSCFYHAFAGAEQAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKL EDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLE HLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQ FKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRR QFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHIIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTL VDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALD YAAFSSALYGESDL*

Gene Symbol:
Accession:
Location:	EXON
Amino Acid Prediction:	N to I (nonsynonymous)
Amino Acid Position:	476

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTYVSCFYHAFAGAEQVRQSLKAHSALWKDPPPESSTCSYQEMRRSSVNSSAMAETAANRICKVLAVNQENERLMEEYER LASELLEWIRRTIPWLENRTPEKTMQAMQKKLEDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMV SDIAGAWQRLEQAEKGYEEWLLNEIRRLERLEHLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFE SDLAAHQDRVEQIAAIAQELNELDYHDAVNVNDRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPF NNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQFKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELR TKWDKVKQLVPIRDQSLQEELARQHANERLRRQFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHIIINY KNNIDKLEGDHQLIQEALVFDNKHTNYTMEHIRVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRR KNGLMDHEDFRACLISMGYDLGEAEFARIMTLVDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAE ELRRELPPDQAQYCIKRMPAYSGPGSVPGALDYAAFSSALYGESDL*

Gene Symbol:	ACTN2
Accession:	NM_001278343
Location:	EXON
Amino Acid Prediction:	N to I (nonsynonymous)
Amino Acid Position:	684

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNQIEPGVQYNYVYDEDEYMIQEEEWDRDLLLDPAWEKQQRKTFTAWCNSHLRKAGTQIENIEEDFRNGLKLMLLLEVIS GERLPKPDRGKMRFHKIANVNKALDYIASKGVKLVSIGAEEIVDGNVKMTLGMIWTIILRFAIQDISVEETSAKEGLLLW CQRKTAPYRNVNIQNFHTSWKDGLGLCALIHRHRPDLIDYSKLNKDDPIGNINLAMEIAEKHLDIPKMLDAEDLVYTARP DERAIMTYVSCYYHAFAGAQKAETAANRICKVLAVNQENERLMEEYERLASELLEWIRRTIPWLENRTPEKTMQAMQKKL EDFRDYRRKHKPPKVQEKCQLEINFNTLQTKLRISNRPAFMPSEGKMVSDIAGAWQRLEQAEKGYEEWLLNEIRRLERLE HLAEKFRQKASTHETWAYGKEQILLQKDYESASLTEVRALLRKHEAFESDLAAHQDRVEQIAAIAQELNELDYHDAVNVN DRCQKICDQWDRLGTLTQKRREALERMEKLLETIDQLHLEFAKRAAPFNNWMEGAMEDLQDMFIVHSIEEIQSLITAHEQ FKATLPEADGERQSIMAIQNEVEKVIQSYNIRISSSNPYSTVTMDELRTKWDKVKQLVPIRDQSLQEELARQHANERLRR QFAAQANAIGPWIQNKMEEIARSSIQITGALEDQMNQLKQYEHIIINYKNNIDKLEGDHQLIQEALVFDNKHTNYTMEHI RVGWELLLTTIARTINEVETQILTRDAKGITQEQMNEFRASFNHFDRRKNGLMDHEDFRACLISMGYDLGEAEFARIMTL VDPNGQGTVTFQSFIDFMTRETADTDTAEQVIASFRILASDKPYILAEELRRELPPDQAQYCIKRMPAYSGPGSVPGALD YAAFSSALYGESDL*

Gene Symbol:	ACTN2
Accession:	NR_184402
Location:	EXON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532	PMID:30847666

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000537010	CLINVAR
	RCV001171001	CLINVAR
	RCV001764561	CLINVAR
	RCV003159801	CLINVAR
dbSNP (RS)	rs576783493	CLINVAR
MedGen	C0878544	CLINVAR
	C2677338	CLINVAR
	C3661900	CLINVAR
	CN230736	CLINVAR
NCBI Gene	ACTN2	CLINVAR
OMIM	102573	CLINVAR
	192600	CLINVAR
	612158	CLINVAR
SNOMED CT	83978005	CLINVAR
	85898001	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:13495275 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:13495275 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar