rs780574093 Rat Genome Database

rs780574093 Rat Genome Database

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Variant: rs780574093 - Homo sapiens

RGD ID:

10049968

RS ID:

rs780574093

ClinVar ID:

CV191213

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	33,244,995
GRCh38	1	32,779,394

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_273t1:c.1464C>T LRG_273:g.43639C>T NG_008408.1:g.43639C>T NC_000001.11:g.32779394G>A More...	12/17/2018	synonymous variant	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV191213	Human	Charcot-Marie-Tooth disease dominant intermediate C		IAGP		8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, dominant intermediate C	ClinVar	PMID:28492532
CV191213	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	488

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*

Gene Symbol:	YARS1
Accession:	XM_011542347
Location:	EXON
Amino Acid Prediction:	F to F (synonymous)
Amino Acid Position:	278

Amino Acid Sequence (Calculated using NCBI transcript definition)
MNPMVPGLTGSKMSSSEEESKIDLLDRKEDVKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYT AYVDLEKDFAAEVVHPGDLKNSVEVALNKLLDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDI RVGKIITVEKHPDADSLYVEKIDVGEAEPRTVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINR QVEPLDPPAGSAPGEHVFVKGYEKGQPDEELKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000174316	CLINVAR
	RCV001496566	CLINVAR
	RCV002460951	CLINVAR
dbSNP (RS)	rs780574093	CLINVAR
MedGen	C0950123	CLINVAR
	C1842237	CLINVAR
	C3661900	CLINVAR
NCBI Gene	YARS	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR