RGD:156391706 Rat Genome Database

RGD:156391706 Rat Genome Database

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Variant: RGD:156391706 - Homo sapiens

RGD ID:

156391706

ClinVar ID:

CV2006257

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	1	33,245,855
GRCh38	1	32,780,254

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_273t1:c.1165G>A NM_003680.4:c.1165G>A LRG_273:g.42779G>A NG_008408.1:g.42779G>A More...	04/07/2022	missense variant	uncertain significance	CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2006257	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:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	179

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

Gene Symbol:	YARS1
Accession:	NM_003680
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	389

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002654447	CLINVAR
MedGen	C1842237	CLINVAR
NCBI Gene	YARS1	CLINVAR
OMIM	603623	CLINVAR
	608323	CLINVAR