RGD:156074786 Rat Genome Database

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Variant: RGD:156074786 -  Homo sapiens

RGD ID: 156074786
ClinVar ID: CV2291339
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YARS1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 33,272,156
GRCh38 1 32,806,555
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_273t1:c.437A>G
NM_003680.4:c.437A>G
LRG_273:g.16478A>G
NG_008408.1:g.16478A>G
More... 		08/29/2022 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
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: 146
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL
DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSRKAGAEVVKQVEHPL
LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED
VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL
LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR
TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE
LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002887090 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR