rs141482636 Rat Genome Database

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Variant: rs141482636 -  Homo sapiens

RGD ID: 13491206
RS ID: rs141482636
ClinVar ID: CV448083
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126805688  YARS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 33,252,566
GRCh38 1 32,786,965
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003680.3:c.795G>C
LRG_273t1:c.795G>C
LRG_273:g.36068G>C
NG_008408.1:g.36068G>C
More... 		12/23/2023 missense variant likely benign|uncertain significance CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE C; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS1
Accession:NM_003680
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 265
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGDAPSPEEKLHLITRNLQEVLGEEKLKEILKERELKIYWGTATTGKPHVAYFVPMSKIADFLKAGCEVTILFADLHAYL
DNMKAPWELLELRVSYYENVIKAMLESIGVPLEKLKFIKGTDYQLSKEYTLDVYRLSSVVTQHDSKKAGAEVVKQVEHPL
LSGLLYPGLQALDEEYLKVDAQFGGIDQRKIFTFAEKYLPALGYSKRVHLMNPMVPGLTGSKMSSSEEESKIDLLDRKED
VKKKLKKAFCEPGNVENNGVLSFINHVLFPLKSEFVILRDEKWGGNKTYTAYVDLEKDFAAEVVHPGDLKNSVEVALNKL
LDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDIRVGKIITVEKHPDADSLYVEKIDVGEAEPR
TVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINRQVEPLDPPAGSAPGEHVFVKGYEKGQPDEE
LKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*

Gene Symbol:YARS1
Accession:XM_011542347
Location:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNPMVPGLTGSKMSSSEEESKIDLLDRKEDVKKKLKKAFCEPGNVENNGVLSFINHVLFPLKSEFVILRDEKWGGNKTYT
AYVDLEKDFAAEVVHPGDLKNSVEVALNKLLDPIREKFNTPALKKLASAAYPDPSKQKPMAKGPAKNSEPEEVIPSRLDI
RVGKIITVEKHPDADSLYVEKIDVGEAEPRTVVSGLVQFVPKEELQDRLVVVLCNLKPQKMRGVESQGMLLCASIEGINR
QVEPLDPPAGSAPGEHVFVKGYEKGQPDEELKPKKKVFEKLQADFKISEECIAQWKQTNFMTKLGSISCKSLKGGNIS*
Variant Samples
Additional References at PubMed
PMID:21384131   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000556540 CLINVAR
  RCV001597164 CLINVAR
  RCV002461303 CLINVAR
dbSNP (RS) rs141482636 CLINVAR
MedGen C0950123 CLINVAR
  C1842237 CLINVAR
  C3661900 CLINVAR
NCBI Gene LOC126805688 CLINVAR
  YARS CLINVAR
OMIM 603623 CLINVAR
  608323 CLINVAR