RGD:13523648 Rat Genome Database

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Variant: RGD:13523648 -  Homo sapiens

RGD ID: 13523648
RS ID: rs376898612
ClinVar ID: CV488632
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 119,215,716
GRCh38 11 119,345,006
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012235.1:g.6668A>G
NC_000011.10:g.119345006T>C
NM_031433.4:c.642-2A>G
NC_000011.9:g.119215716T>C
More... 		08/28/2021 splice acceptor variant pathogenic|conflicting interpretations of pathogenicity|uncertain significance none provided; Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C1QTNF5
Accession:NM_015645
Location:5UTRS;INTRON

Gene Symbol:MFRP
Accession:NM_031433
Location:INTRON

Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:12140190   PMID:15976030   PMID:16199547   PMID:20361016   PMID:28492532   PMID:33203948  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000593268 CLINVAR
  RCV000778307 CLINVAR
  RCV000778308 CLINVAR
dbSNP (RS) rs376898612 CLINVAR
MedGen C1854065 CLINVAR
  C1970236 CLINVAR
  C3661900 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR