rs2125750668 Rat Genome Database

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Variant: rs2125750668 -  Homo sapiens

RGD ID: 151661466
RS ID: rs2125750668
ClinVar ID: CV1175584
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: LARS2  
Reference Nucleotide: G
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 3 45,554,649
GRCh38 3 45,513,157
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
LRG_1353t1:c.1783del
NM_001368263.1:c.1783del
NM_015340.4:c.1783del
LRG_1353:g.129594del
More... 		frameshift variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1175584HumanPerrault Syndrome 4  IAGP 8554872ClinVar Annotator: match by term: Perrault syndrome 4ClinVarPMID:25741868


.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001823239 CLINVAR
dbSNP (RS) rs2125750668 CLINVAR
MedGen C3809105 CLINVAR
NCBI Gene LARS2 CLINVAR
OMIM 604544 CLINVAR
  615300 CLINVAR