RGD:597721731 Rat Genome Database

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Variant: RGD:597721731 -  Homo sapiens

RGD ID: 597721731
ClinVar ID: CV3733802
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LARS2  LARS2-AS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 45,541,933
GRCh38 3 45,500,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1353t1:c.1623-1G>T
NM_001368263.1:c.1623-1G>T
NM_015340.4:c.1623-1G>T
LRG_1353:g.116878G>T
More... 		01/09/2025 splice acceptor variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV3733802HumanPerrault Syndrome 4  IAGP 8554872ClinVar Annotator: match by term: Perrault syndrome 4ClinVarPMID:30311386


.
PMID:30311386  



Database
Acc Id
Source(s)
ClinVar RCV005053107 CLINVAR
MedGen C3809105 CLINVAR
NCBI Gene LARS2 CLINVAR
  LARS2-AS1 CLINVAR
OMIM 604544 CLINVAR
  615300 CLINVAR