RGD:10404503 Rat Genome Database

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Variant: RGD:10404503 -  Homo sapiens

RGD ID: 10404503
RS ID: rs201211377
ClinVar ID: CV208866
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OCRL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 128,674,716
GRCh38 X 129,540,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008638.1:g.5465C>T
NC_000023.11:g.129540739C>T
NC_000023.10:g.128674716C>T
NM_001318784.1:c.40-2C>T
More... 		11/30/2021 intron variant pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Lowe oculocerebrorenal syndrome; Nephrolithiasis/nephrocalcinosis; none provided; Oculocerebrorenal Syndrome; Phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OCRL
Accession:NM_001318784
Location:INTRON

Gene Symbol:OCRL
Accession:NM_000276
Location:INTRON

Gene Symbol:OCRL
Accession:NM_001587
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000195233 CLINVAR
  RCV000714602 CLINVAR
  RCV001701636 CLINVAR
  RCV002321776 CLINVAR
dbSNP (RS) rs201211377 CLINVAR
MedGen C0028860 CLINVAR
  C0950123 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene OCRL CLINVAR
OMIM 300535 CLINVAR
  309000 CLINVAR
SNOMED CT 79385002 CLINVAR