rs750198437 Rat Genome Database

rs750198437 Rat Genome Database

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Variant: rs750198437 - Homo sapiens

RGD ID:

13821928

RS ID:

rs750198437

ClinVar ID:

CV557029

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	1	33,263,386
GRCh38	1	32,797,785

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003680.3:c.569A>G LRG_273t1:c.569A>G LRG_273:g.25248A>G NG_008408.1:g.25248A>G More...	10/24/2022	missense variant	uncertain significance	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV557029	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:	XM_011542347
Location:	5UTRS;EXON

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	K to R (nonsynonymous)
Amino Acid Position:	190

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000696571	CLINVAR
dbSNP (RS)	rs750198437	CLINVAR
MedGen	C1842237	CLINVAR
NCBI Gene	YARS	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR