rs769303249 Rat Genome Database

rs769303249 Rat Genome Database

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Variant: rs769303249 - Homo sapiens

RGD ID:

12886744

RS ID:

rs769303249

ClinVar ID:

CV400057

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	15	35,085,591
GRCh38	15	34,793,390

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
LRG_388t1:c.309C>T LRG_388:g.7337C>T NG_007553.1:g.7337C>T NC_000015.10:g.34793390G>A More...	10/14/2019	synonymous variant	likely benign	all ages	1-9 / 100 000	ACTC1-Related Familial Hypertrophic Cardiomyopathy; Atrial septal defect 5; Cardiomyopathies; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11; HYPERTROPHIC MYOCARDIOPATHY

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV400057	Human	atrial heart septal defect 5		IAGP		8554872	ClinVar Annotator: match by term: Atrial septal defect 5	ClinVar	PMID:25741868 and PMID:28492532
CV400057	Human	cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV400057	Human	dilated cardiomyopathy 1R		IAGP		8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1R	ClinVar	PMID:25741868 and PMID:28492532
CV400057	Human	hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV400057	Human	hypertrophic cardiomyopathy 11		IAGP		8554872	ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV400057	Human	Cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV400057	Human	Hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	ACTC1
Accession:	NM_001406485
Location:	5UTRS;EXON

Gene Symbol:	ACTC1
Accession:	XM_047432979
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTC1
Accession:	NM_001406482
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTC1
Accession:	NM_001406483
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTC1
Accession:	NM_001406484
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	58

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIM FETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTT AEREIVRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIM KCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYD EAGPSIVHRKCF*

Gene Symbol:	ACTC1
Accession:	NM_005159
Location:	EXON
Amino Acid Prediction:	H to H (synonymous)
Amino Acid Position:	103

Amino Acid Sequence (Calculated using NCBI transcript definition)
MCDDEETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLKYPIEHGIITN WDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQAVLSLYASGRTTGIVLDSGDG VTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFENEMATAASSSSLEK SYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTMYPGIADRMQKEIT ALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	GJD2-DT
Accession:	NR_120329
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001185796	CLINVAR
	RCV001438043	CLINVAR
	RCV003298535	CLINVAR
	RCV004002151	CLINVAR
dbSNP (RS)	rs769303249	CLINVAR
MedGen	C0007194	CLINVAR
	C0878544	CLINVAR
	C2677506	CLINVAR
	CN230736	CLINVAR
NCBI Gene	101928174	CLINVAR
	ACTC1	CLINVAR
OMIM	102540	CLINVAR
	612098	CLINVAR
	612794	CLINVAR
	613424	CLINVAR
SNOMED CT	85898001	CLINVAR