rs140841549 Rat Genome Database

rs140841549 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs140841549 - Homo sapiens

RGD ID:

8624980

RS ID:

rs140841549

ClinVar ID:

CV80099

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	33,244,988
GRCh38	1	32,779,387

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003680.3:c.1471T>C LRG_273:g.43646T>C NG_008408.1:g.43646T>C NC_000001.11:g.32779387A>G More...	01/19/2022	synonymous variant	likely benign\|not provided	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV80099	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:	L to V (nonsynonymous)
Amino Acid Position:	491

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

Gene Symbol:	YARS1
Accession:	XM_011542347
Location:	EXON
Amino Acid Prediction:	L to V (nonsynonymous)
Amino Acid Position:	281

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002586394	CLINVAR
dbSNP (RS)	rs140841549	CLINVAR
MedGen	C1842237	CLINVAR
NCBI Gene	YARS1	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR