RGD:11601962 Rat Genome Database

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Variant: RGD:11601962 -  Homo sapiens

RGD ID: 11601962
RS ID: rs541554381
ClinVar ID: CV316916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127823937  YARS2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 32,908,183
GRCh38 12 32,755,249
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028122.1:g.5705A>G
NC_000012.12:g.32755249T>C
NC_000012.11:g.32908183T>C
NP_001035526.1:p.Lys209Arg
More...
06/01/2018 missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS2
Accession:NM_001040436
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 209
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPILRSFSWGRWSGTLNLSVLLPLGLRKAHSGAQGLLAAQKARGLFKDFFPETGTKIELPELFDRGTASFPQTIYCGF
DPTADSLHVGHLLALLGLFHLQRAGHNVIALVGGATARLGDPSGRTKEREALETERVRANARALRLGLEALAANHQQLFT
DGRSWGSFTVLDNSAWYQKQHLVDFLAAVGGHFRMGTLLSRQSVQLRLRSPEGMSLAEFFYQVLQAYDFYYLFQRYGCRV
QLGGSDQLGNIMSGYEFINKLTGEDVFGITVPLITSTTGAKLGKSAGNAVWLNRDKTSPFELYQFFVRQPDDSVERYLKL
FTFLPLPEIDHIMQLHVKEPERRGPQKRLAAEVTKLVHGREGLDSAKRCTQALYHSSIDALEVMSDQELKELFKEAPFSE
FFLDPGTSVLDTCRKANAIPDGPRGYRMITEGGVSINHQQVTNPESVLIVGQHILKNGLSLLKIGKRNFYIIKWLQL*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000286673 CLINVAR
  RCV000320609 CLINVAR
  RCV000488251 CLINVAR
  RCV003920279 CLINVAR
dbSNP (RS) rs541554381 CLINVAR
MedGen C3150802 CLINVAR
  C3661900 CLINVAR
  CN239187 CLINVAR
NCBI Gene YARS2 CLINVAR
OMIM 610957 CLINVAR
  613561 CLINVAR