RGD:156359092 Rat Genome Database

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Variant: RGD:156359092 -  Homo sapiens

RGD ID: 156359092
ClinVar ID: CV2183955
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268602  YARS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 33,276,278
GRCh38 1 32,810,677
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_273t1:c.294G>A
NM_003680.4:c.294G>A
LRG_273:g.12356G>A
NG_090463.1:g.445C>T
More... 		08/07/2022 synonymous variant likely benign CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:XM_011542347
Location:5UTRS;INTRON

Gene Symbol:YARS1
Accession:NM_003680
Location:EXON
Amino Acid Prediction: E to E (synonymous)
Amino Acid Position: 98
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL
DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL
LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED
VKKKLKKAFCEPGNVENNGVLSFIKHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL
LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR
TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE
LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003048892 CLINVAR
MedGen C1842237 CLINVAR
NCBI Gene YARS1 CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR