RGD:11665969 Rat Genome Database

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Variant: RGD:11665969 -  Homo sapiens

RGD ID: 11665969
RS ID: rs10844337
ClinVar ID: CV330692
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YARS2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 32,899,929
GRCh38 12 32,746,995
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.13959G>C
NG_012219.1:g.72793C>G
NC_000012.12:g.32746995C>G
NC_000012.11:g.32899929C>G
More... 		12/05/2021 3 prime utr variant benign|likely benign Mitochondrial myopathy and sideroblastic anemia; Myopathy with lactic acidosis and sideroblastic anemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:YARS2
Accession:NM_001040436
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000305932 CLINVAR
  RCV000322564 CLINVAR
  RCV000392192 CLINVAR
  RCV001114809 CLINVAR
  RCV001653514 CLINVAR
dbSNP (RS) rs10844337 CLINVAR
MedGen C1838103 CLINVAR
  C3150802 CLINVAR
  C3661900 CLINVAR
  CN239187 CLINVAR
  CN239368 CLINVAR
NCBI Gene DNM1L CLINVAR
  YARS2 CLINVAR
OMIM 603850 CLINVAR
  610957 CLINVAR
  613561 CLINVAR