rs1373760624 Rat Genome Database

rs1373760624 Rat Genome Database

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Variant: rs1373760624 - Homo sapiens

RGD ID:

126763742

RS ID:

rs1373760624

ClinVar ID:

CV1031969

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	15	35,086,909
GRCh38	15	34,794,708

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_005159.5:c.101C>G LRG_388:g.6019C>G NG_007553.1:g.6019C>G NC_000015.10:g.34794708G>C More...	02/28/2020	missense variant	uncertain significance	ACTC1-Related Familial Hypertrophic Cardiomyopathy; Atrial septal defect 5; Dilated cardiomyopathy 1R; Familial hypertrophic cardiomyopathy 11

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1031969	Human	atrial heart septal defect 5		IAGP		8554872	ClinVar Annotator: match by term: Atrial septal defect 5	ClinVar	PMID:28492532
CV1031969	Human	dilated cardiomyopathy 1R		IAGP		8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1R	ClinVar	PMID:28492532
CV1031969	Human	hypertrophic cardiomyopathy 11		IAGP		8554872	ClinVar Annotator: match by term: Familial hypertrophic cardiomyopathy 11	ClinVar	PMID:28492532

Gene Symbol:	ACTC1
Accession:	NM_001406483
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	34

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

Gene Symbol:	ACTC1
Accession:	NM_005159
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	34

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

Gene Symbol:	ACTC1
Accession:	XM_047432979
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	34

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

Gene Symbol:	ACTC1
Accession:	NM_001406482
Location:	EXON
Amino Acid Prediction:	P to P (synonymous)
Amino Acid Position:	34

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

Gene Symbol:	ACTC1
Accession:	NM_001406484
Location:	INTRON

Gene Symbol:	ACTC1
Accession:	NM_001406485
Location:	INTRON

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001341397	CLINVAR
	RCV002368125	CLINVAR
dbSNP (RS)	rs1373760624	CLINVAR
MedGen	C2677506	CLINVAR
	CN230736	CLINVAR
NCBI Gene	AC087457.1	CLINVAR
	ACTC1	CLINVAR
OMIM	102540	CLINVAR
	612098	CLINVAR
	612794	CLINVAR
	613424	CLINVAR