rs750204313 Rat Genome Database

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Variant: rs750204313 - Homo sapiens

RGD ID:

34893893

RS ID:

rs750204313

ClinVar ID:

CV912502

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126861898 MYH7

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	14	23,893,980
GRCh38	14	23,424,771

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000014.9:g.23424771C>T NC_000014.8:g.23893980C>T NM_000257.3:c.2677G>A NP_000248.2:p.Ala893Thr More...	07/10/2024	missense variant	uncertain significance	Cardiomyopathies; Congenital Fiber-Type Disproportion; Congenital fiber-type disproportion myopathy; Congenital myopathy 7A, myosin storage, autosomal dominant; CONGENITAL MYOPATHY 7B, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; Congenital myopathy with fiber type disproportion; Dilated cardiomyopathy 1S; Familial hypertrophic cardiomyopathy 1; HYPERTROPHIC MYOCARDIOPATHY; Laing distal myopathy; Laing early-onset distal myopathy; MYH7-Related Familial Hypertrophic Cardiomyopathy; MYH7-related late-onset scapuloperoneal muscular dystrophy; MYH7-related skeletal myopathy; MYOPATHY WITH LYSIS OF TYPE I MYOFIBRILS; Myopathy, distal, 1; MYOPATHY, DISTAL, EARLY-ONSET, AUTOSOMAL DOMINANT; MYOPATHY, HYALINE BODY, AUTOSOMAL DOMINANT; MYOPATHY, LATE DISTAL HEREDITARY; Myopathy, myosin storage, autosomal recessive; Myosin storage myopathy; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Scapuloperoneal muscular dystrophy; Scapuloperoneal myopathy, MYH7-related; Scapuloperoneal syndrome, myopathic type

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV912502	Human	autosomal dominant hyaline body myopathy		IAGP		8554872	ClinVar Annotator: match by term: Congenital myopathy 7A more ...	ClinVar	PMID:25741868 more ...
CV912502	Human	autosomal recessive hyaline body myopathy		IAGP		8554872	ClinVar Annotator: match by term: CONGENITAL MYOPATHY 7B more ...	ClinVar	PMID:25741868 more ...
CV912502	Human	cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	congenital myopathy 4A		IAGP		8554872	ClinVar Annotator: match by term: Congenital Fiber-Type Disproportion	ClinVar	PMID:25741868 more ...
CV912502	Human	congenital structural myopathy		IAGP		8554872	ClinVar Annotator: match by term: Congenital fiber-type disproportion myopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	dilated cardiomyopathy 1S		IAGP		8554872	ClinVar Annotator: match by term: Dilated cardiomyopathy 1S	ClinVar	PMID:25741868 more ...
CV912502	Human	distal myopathy		IAGP		8554872	ClinVar Annotator: match by term: MYOPATHY and LATE DISTAL HEREDITARY	ClinVar	PMID:25741868 more ...
CV912502	Human	distal myopathy 1		IAGP		8554872	ClinVar Annotator: match by term: Laing early-onset distal myopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	hyaline body myopathy		IAGP		8554872	ClinVar Annotator: match by term: Myosin storage myopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	hypertrophic cardiomyopathy 1		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy 1	ClinVar	PMID:25741868 more ...
CV912502	Human	scapuloperoneal myopathy		IAGP		8554872	ClinVar Annotator: match by term: Scapuloperoneal syndrome and myopathic type	ClinVar	PMID:25741868 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV912502	Human	Cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Cardiomyopathy	ClinVar	PMID:25741868 more ...
CV912502	Human	Hypertrophic cardiomyopathy		IAGP		8554872	ClinVar Annotator: match by term: Hypertrophic cardiomyopathy	ClinVar	PMID:25741868 more ...

Gene Symbol:	MYH7
Accession:	NM_000257
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	893

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQN PPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDN AYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTV ASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLC HPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKS ANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKK GSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARME YKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSL LQEKNDLQLQVQTEQDNLADAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQ EKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEE ELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTSQRAKL QTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRV LSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSG KTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTS LDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAIT DAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGM RKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL RAKSRDIGTKGLNEE*

Gene Symbol:	MYH7
Accession:	NM_001407004
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	893

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDSEMAVFGAAAPYLRKSEKERLEAQTRPFDLKKDVFVPDDKQEFVKAKIVSREGGKVTAETEYGKTVTVKEDQVMQQN PPKFDKIEDMAMLTFLHEPAVLYNLKDRYGSWMIYTYSGLFCVTVNPYKWLPVYTPEVVAAYRGKKRSEAPPHIFSISDN AYQYMLTDRENQSILITGESGAGKTVNTKRVIQYFAVIAAIGDRSKKDQSPGKGTLEDQIIQANPALEAFGNAKTVRNDN SSRFGKFIRIHFGATGKLASADIETYLLEKSRVIFQLKAERDYHIFYQILSNKKPELLDMLLITNNPYDYAFISQGETTV ASIDDAEELMATDNAFDVLGFTSEEKNSMYKLTGAIMHFGNMKFKLKQREEQAEPDGTEEADKSAYLMGLNSADLLKGLC HPRVKVGNEYVTKGQNVQQVIYATGALAKAVYERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSFEQLCINF TNEKLQQFFNHHMFVLEQEEYKKEGIEWTFIDFGMDLQACIDLIEKPMGIMSILEEECMFPKATDMTFKAKLFDNHLGKS ANFQKPRNIKGKPEAHFSLIHYAGIVDYNIIGWLQKNKDPLNETVVGLYQKSSLKLLSTLFANYAGADAPIEKGKGKAKK GSSFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGVMDNPLVMHQLRCNGVLEGIRICRKGFPNRILYGDFRQ RYRILNPAAIPEGQFIDSRKGAEKLLSSLDIDHNQYKFGHTKVFFKAGLLGLLEEMRDERLSRIITRIQAQSRGVLARME YKKLLERRDSLLVIQWNIRAFMGVKNWPWMKLYFKIKPLLKSAEREKEMASMKEEFTRLKEALEKSEARRKELEEKMVSL LQEKNDLQLQVQTEQDNLADAEERCDQLIKNKIQLEAKVKEMNERLEDEEEMNAELTAKKRKLEDECSELKRDIDDLELT LAKVEKEKHATENKVKNLTEEMAGLDEIIAKLTKEKKALQEAHQQALDDLQAEEDKVNTLTKAKVKLEQQVDDLEGSLEQ EKKVRMDLERAKRKLEGDLKLTQESIMDLENDKQQLDERLKKKDFELNALNARIEDEQALGSQLQKKLKELQARIEELEE ELEAERTARAKVEKLRSDLSRELEEISERLEEAGGATSVQIEMNKKREAEFQKMRRDLEEATLQHEATAAALRKKHADSV AELGEQIDNLQRVKQKLEKEKSEFKLELDDVTSNMEQIIKAKANLEKMCRTLEDQMNEHRSKAEETQRSVNDLTSQRAKL QTENGELSRQLDEKEALISQLTRGKLTYTQQLEDLKRQLEEEVKAKNALAHALQSARHDCDLLREQYEEETEAKAELQRV LSKANSEVAQWRTKYETDAIQRTEELEEAKKKLAQRLQEAEEAVEAVNAKCSSLEKTKHRLQNEIEDLMVDVERSNAAAA ALDKKQRNFDKILAEWKQKYEESQSELESSQKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISDLTEQLGSSG KTIHELEKVRKQLEAEKMELQSALEEAEASLEHEEGKILRAQLEFNQIKAEIERKLAEKDEEMEQAKRNHLRVVDSLQTS LDAETRSRNEALRVKKKMEGDLNEMEIQLSHANRMAAEAQKQVKSLQSLLKDTQIQLDDAVRANDDLKENIAIVERRNNL LQAELEELRAVVEQTERSRKLAEQELIETSERVQLLHSQNTSLINQKKKMDADLSQLQTEVEEAVQECRNAEEKAKKAIT DAAMMAEELKKEQDTSAHLERMKKNMEQTIKDLQHRLDEAEQIALKGGKKQLQKLEARVRELENELEAEQKRNAESVKGM RKSERRIKELTYQTEEDRKNLLRLQDLVDKLQLKVKAYKRQAEEAEEQANTNLSKFRKVQHELDEAEERADIAESQVNKL RAKSRDIGTKGLNEE*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:27532257	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001176922	CLINVAR
	RCV001875829	CLINVAR
	RCV002483960	CLINVAR
	RCV003130173	CLINVAR
	RCV004986871	CLINVAR
dbSNP (RS)	rs750204313	CLINVAR
MedGen	C0007194	CLINVAR
	C0878544	CLINVAR
	C3495498	CLINVAR
	C3661900	CLINVAR
	CN230736	CLINVAR
NCBI Gene	LOC126861898	CLINVAR
	MYH7	CLINVAR
OMIM	160500	CLINVAR
	160760	CLINVAR
	192600	CLINVAR
	255160	CLINVAR
	255310	CLINVAR
	608358	CLINVAR
	613426	CLINVAR
SNOMED CT	699267007	CLINVAR
	85898001	CLINVAR

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

Variant: rs750204313 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: rs750204313 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar