rs750410479 Rat Genome Database

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Variant: rs750410479 - Homo sapiens

RGD ID:

151832204

RS ID:

rs750410479

ClinVar ID:

CV1459652

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MYH9

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	22	36,684,347
GRCh38	22	36,288,301

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
NM_002473.6:c.4883C>T LRG_567:g.104718C>T NG_011884.2:g.104718C>T NC_000022.11:g.36288301G>A More...	01/29/2024	missense variant	benign\|conflicting interpretations of pathogenicity\|uncertain significance	ALPORT SYNDROME WITH MACROTHROMBOCYTOPENIA; Autosomal dominant nonsyndromic deafness 17; Autosomal dominant nonsyndromic hearing loss 17; BLEEDING DISORDER, PLATELET-TYPE, 6; Deafness, autosomal dominant 17; Deafness, autosomal dominant nonsyndromic sensorineural 17; DOHLE LEUKOCYTE INCLUSIONS WITH GIANT PLATELETS; Epstein syndrome; Fechtner syndrome; Giant platelet syndrome with thrombocytopenia; Late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration; Macrothrombocytopenia and progressive sensorineural deafness; MACROTHROMBOCYTOPENIA WITH DISPERSED LEUKOCYTIC INCLUSIONS; MACROTHROMBOCYTOPENIA WITH LEUKOCYTE INCLUSIONS; MACROTHROMBOCYTOPENIA, NEPHRITIS, AND DEAFNESS; MACROTHROMBOCYTOPENIA, NEPHRITIS, DEAFNESS, AND LEUKOCYTE INCLUSIONS; May-Hegglin anomaly; none provided; Nonsyndromic hereditary deafness DFNA17; Sebastian platelet syndrome; Sebastian syndrome

Disease Annotations Click to see Annotation Detail View

genetic disease (IAGP)

MYH-9 related disease (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	MYH9
Accession:	NM_002473
Location:	EXON
Amino Acid Prediction:	S to L (nonsynonymous)
Amino Acid Position:	1628

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAQQAADKYLYVDKNFINNPLAQADWAAKKLVWVPSDKSGFEPASLKEEVGEEAIVELVENGKKVKVNKDDIQKMNPPKF SKVEDMAELTCLNEASVLHNLKERYYSGLIYTYSGLFCVVINPYKNLPIYSEEIVEMYKGKKRHEMPPHIYAITDTAYRS MMQDREDQSILCTGESGAGKTENTKKVIQYLAYVASSHKSKKDQGELERQLLQANPILEAFGNAKTVKNDNSSRFGKFIR INFDVNGYIVGANIETYLLEKSRAIRQAKEERTFHIFYYLLSGAGEHLKTDLLLEPYNKYRFLSNGHVTIPGQQDKDMFQ ETMEAMRIMGIPEEEQMGLLRVISGVLQLGNIVFKKERNTDQASMPDNTAAQKVSHLLGINVTDFTRGILTPRIKVGRDY VQKAQTKEQADFAIEALAKATYERMFRWLVLRINKALDKTKRQGASFIGILDIAGFEIFDLNSFEQLCINYTNEKLQQLF NHTMFILEQEEYQREGIEWNFIDFGLDLQPCIDLIEKPAGPPGILALLDEECWFPKATDKSFVEKVMQEQGTHPKFQKPK QLKDKADFCIIHYAGKVDYKADEWLMKNMDPLNDNIATLLHQSSDKFVSELWKDVDRIIGLDQVAGMSETALPGAFKTRK GMFRTVGQLYKEQLAKLMATLRNTNPNFVRCIIPNHEKKAGKLDPHLVLDQLRCNGVLEGIRICRQGFPNRVVFQEFRQR YEILTPNSIPKGFMDGKQACVLMIKALELDSNLYRIGQSKVFFRAGVLAHLEEERDLKITDVIIGFQACCRGYLARKAFA KRQQQLTAMKVLQRNCAAYLKLRNWQWWRLFTKVKPLLQVSRQEEEMMAKEEELVKVREKQLAAENRLTEMETLQSQLMA EKLQLQEQLQAETELCAEAEELRARLTAKKQELEEICHDLEARVEEEEERCQHLQAEKKKMQQNIQELEEQLEEEESARQ KLQLEKVTTEAKLKKLEEEQIILEDQNCKLAKEKKLLEDRIAEFTTNLTEEEEKSKSLAKLKNKHEAMITDLEERLRREE KQRQELEKTRRKLEGDSTDLSDQIAELQAQIAELKMQLAKKEEELQAALARVEEEAAQKNMALKKIRELESQISELQEDL ESERASRNKAEKQKRDLGEELEALKTELEDTLDSTAAQQELRSKREQEVNILKKTLEEEAKTHEAQIQEMRQKHSQAVEE LAEQLEQTKRVKANLEKAKQTLENERGELANEVKVLLQGKGDSEHKRKKVEAQLQELQVKFNEGERVRTELADKVTKLQV ELDNVTGLLSQSDSKSSKLTKDFSALESQLQDTQELLQEENRQKLSLSTKLKQVEDEKNSFREQLEEEEEAKHNLEKQIA TLHAQVADMKKKMEDSVGCLETAEEVKRKLQKDLEGLSQRHEEKVAAYDKLEKTKTRLQQELDDLLVDLDHQRQSACNLE KKQKKFDQLLAEEKTISAKYAEERDRAEAEAREKETKALSLARALEEAMEQKAELERLNKQFRTEMEDLMSSKDDVGKSV HELEKSKRALEQQVEEMKTQLEELEDELQATEDAKLRLEVNLQAMKAQFERDLQGRDEQSEEKKKQLVRQVREMEAELED ERKQRSMAVAARKKLEMDLKDLEAHIDLANKNRDEAIKQLRKLQAQMKDCMRELDDTRASREEILAQAKENEKKLKSMEA EMIQLQEELAAAERAKRQAQQERDELADEIANSSGKGALALEEKRRLEARIAQLEEELEEEQGNTELINDRLKKANLQID QINTDLNLERSHAQKNENARQQLERQNKELKVKLQEMEGTVKSKYKASITALEAKIAQLEEQLDNETKERQAACKQVRRT EKKLKDVLLQVDDERRNAEQYKDQADKASTRLKQLKRQLEEAEEEAQRANASRRKLQRELEDATETADAMNREVSSLKNK LRRGDLPFVVPRRMARKGAGDGSDEEVDGKADGAEAKPAE*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002050831	CLINVAR
	RCV002489922	CLINVAR
	RCV002545350	CLINVAR
dbSNP (RS)	rs750410479	CLINVAR
MedGen	C0950123	CLINVAR
	C3661900	CLINVAR
	C5200934	CLINVAR
NCBI Gene	MYH9	CLINVAR
OMIM	153640	CLINVAR
	153650	CLINVAR
	155100	CLINVAR
	160775	CLINVAR
	603622	CLINVAR
	605249	CLINVAR
SNOMED CT	236422008	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)

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Variant: rs750410479 - Homo sapiens

Imported Disease Annotations - ClinVar