rs148823175 Rat Genome Database

rs148823175 Rat Genome Database

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Variant: rs148823175 - Homo sapiens

RGD ID:

21068684

RS ID:

rs148823175

ClinVar ID:

CV792889

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127268602 YARS1

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	1	33,276,225
GRCh38	1	32,810,624

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_003680.4:c.347A>G NP_003671.1:p.Lys116Arg NP_003671.1:p.Lys116Arg LRG_273:g.12409A>G More...	12/23/2022	missense variant	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)
CV792889	Human	Charcot-Marie-Tooth disease dominant intermediate C		IAGP		8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease dominant intermediate C	ClinVar	PMID:26467025\|PMID:28492532

Gene Symbol:	YARS1
Accession:	XM_011542347
Location:	5UTRS;INTRON

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	K to R (nonsynonymous)
Amino Acid Position:	116

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

ClinVar GRCh37	ClinVar GRCh38

PMID:26467025	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000993559	CLINVAR
	RCV003615866	CLINVAR
dbSNP (RS)	rs148823175	CLINVAR
MedGen	C1842237	CLINVAR
	C3661900	CLINVAR
NCBI Gene	YARS1	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR