RGD:11585252 Rat Genome Database

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Variant: RGD:11585252 -  Homo sapiens

RGD ID: 11585252
RS ID: rs200181343
ClinVar ID: CV318744
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C1QTNF5  MFRP  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 119,210,007
GRCh38 11 119,339,297
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_012235.1:g.12377C>G
NC_000011.10:g.119339297G>C
NC_000011.9:g.119210007G>C
NM_031433.4:c.*1662C>G
More... 		01/12/2018 3 prime utr variant benign|likely benign|uncertain significance infancy 1-9 / 100 000 Posterior Microphthalmia with Retinitis Pigmentosa, Foveoschisis, and Optic Disc Drusen; RETINAL DEGENERATION, LATE-ONSET, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:C1QTNF5
Accession:NM_001278431
Location:3UTRS;EXON

Gene Symbol:MFRP
Accession:NM_031433
Location:3UTRS;EXON

Gene Symbol:C1QTNF5
Accession:NM_015645
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000279798 CLINVAR
  RCV000337306 CLINVAR
  RCV001108788 CLINVAR
dbSNP (RS) rs200181343 CLINVAR
MedGen C0035304 CLINVAR
  C1854065 CLINVAR
  C1970236 CLINVAR
NCBI Gene C1QTNF5 CLINVAR
  MFRP CLINVAR
OMIM 605670 CLINVAR
  606227 CLINVAR
  608752 CLINVAR
  611040 CLINVAR