rs1461497941 Rat Genome Database

rs1461497941 Rat Genome Database

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Variant: rs1461497941 - Homo sapiens

RGD ID:

127323224

RS ID:

rs1461497941

ClinVar ID:

CV1161106

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	35,082,703
GRCh38	15	34,790,502

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_388t1:c.1044G>A NM_005159.5:c.1044G>A LRG_388:g.10225G>A NG_007553.1:g.10225G>A More...	10/30/2023	synonymous variant	likely benign	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)
CV1161106	Human	cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV1161106	Human	hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV1161106	Human	hypertrophic cardiomyopathy 11		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 11	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1161106	Human	Cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532
CV1161106	Human	Hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	ACTC1
Accession:	XM_047432979
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	348

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

Gene Symbol:	ACTC1
Accession:	NM_001406485
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	201

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLPCIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREIVRDIKEKLCYVALDFEN EMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETTYNSIMKCDIDIRKDLYANNVLSGGTTM YPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILASLSTFQQMWISKQEYDEAGPSIVHRKCF*

Gene Symbol:	ACTC1
Accession:	NM_001406482
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	348

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

Gene Symbol:	ACTC1
Accession:	NM_001406484
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	303

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

Gene Symbol:	ACTC1
Accession:	NM_005159
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	348

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

Gene Symbol:	ACTC1
Accession:	NM_001406483
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	348

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	RCV001523929	CLINVAR
	RCV003771574	CLINVAR
	RCV004007241	CLINVAR
dbSNP (RS)	rs1461497941	CLINVAR
MedGen	C0007194	CLINVAR
	C0878544	CLINVAR
	C2677506	CLINVAR
NCBI Gene	ACTC1	CLINVAR
	GJD2-DT	CLINVAR
OMIM	102540	CLINVAR
	612098	CLINVAR
	612794	CLINVAR
	613424	CLINVAR
SNOMED CT	85898001	CLINVAR