rs1009349245 Rat Genome Database

rs1009349245 Rat Genome Database

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Variant: rs1009349245 - Homo sapiens

RGD ID:

13467524

RS ID:

rs1009349245

ClinVar ID:

CV448086

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC126805688 YARS1

Reference Nucleotide:

A

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	1	33,252,615
GRCh38	1	32,787,014

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_273:g.36019T>G NC_000001.11:g.32787014A>C NC_000001.10:g.33252615A>C NG_008408.1:g.36019T>G More...	06/12/2017	missense variant	uncertain significance	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV448086	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

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	249

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

Gene Symbol:	YARS1
Accession:	XM_011542347
Location:	EXON
Amino Acid Prediction:	F to C (nonsynonymous)
Amino Acid Position:	39

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000543963	CLINVAR
dbSNP (RS)	rs1009349245	CLINVAR
MedGen	C1842237	CLINVAR
NCBI Gene	LOC126805688	CLINVAR
	YARS	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR