RGD:405268129 Rat Genome Database

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Variant: RGD:405268129 -  Homo sapiens

RGD ID: 405268129
ClinVar ID: CV3189650
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARS2  LARS2-AS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 45,527,295
GRCh38 3 45,485,803
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1353t1:c.1123+7A>T
NM_001368263.1:c.1123+7A>T
NM_015340.4:c.1123+7A>T
LRG_1353:g.102240A>T
More... 		08/17/2023 intron variant likely benign LARS2-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3189650HumanHYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA  IAGP 8554872ClinVar Annotator: match by term: LARS2-related conditionClinVarPMID:28492532
Gene Symbol:LARS2
Accession:XM_017006042
Location:INTRON

Gene Symbol:LARS2
Accession:NM_001368263
Location:INTRON

Gene Symbol:LARS2
Accession:NM_015340
Location:INTRON

Gene Symbol:LARS2
Accession:XM_047447830
Location:INTRON

Gene Symbol:LARS2
Accession:XM_011533554
Location:INTRON

Gene Symbol:LARS2
Accession:XM_047447829
Location:INTRON

Gene Symbol:LARS2-AS1
Accession:NR_048543
Location:INTRON;NON-CODING

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV003899041 CLINVAR
  RCV005064713 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene LARS2 CLINVAR
  LARS2-AS1 CLINVAR
OMIM 604544 CLINVAR