RGD:8563546 Rat Genome Database

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Variant: RGD:8563546 -  Homo sapiens

RGD ID: 8563546
RS ID: rs61755798
ClinVar ID: CV28212
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 42,672,302
GRCh38 6 42,704,564
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NC_000006.12:g.42704564G>C
NC_000006.11:g.42672302G>C
NP_000313.2:p.Pro210Arg
NM_000322.5:c.629C>G
More... 		04/06/2021 missense|missense variant pathogenic|likely pathogenic|uncertain significance|not provided adulthood Best disease; Best macular dystrophy; Best vitelliform macular dystrophy, multifocal; Fundus flavimaculatus; Macular degeneration, polymorphic vitelline; none provided; PRPH2 vitelliform macular dystrophy; PRPH2-related condition; PRPH2-Related Disorders; Stargardt's disease; vitelliform macular dystrophy caused by mutation in PRPH2; VITELLIFORM MACULAR DYSTROPHY, EARLY-ONSET; VITELLIFORM MACULAR DYSTROPHY, JUVENILE-ONSET
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PRPH2
Accession:NM_000322
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 210
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVRFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

Gene Symbol:PRPH2
Accession:XR_007059288
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:4142662   PMID:7519821   PMID:7862413   PMID:11139241   PMID:16799052   PMID:16885924   PMID:17504850   PMID:21071739   PMID:22863181   PMID:25082885   PMID:25741868   PMID:28492532  
PMID:32531846  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000084997 CLINVAR
  RCV000322776 CLINVAR
  RCV001074849 CLINVAR
  RCV001250286 CLINVAR
  RCV001250287 CLINVAR
  RCV001250288 CLINVAR
  RCV002508119 CLINVAR
dbSNP (RS) rs61755798 CLINVAR
MedGen C0271093 CLINVAR
  C0854723 CLINVAR
  C1868569 CLINVAR
  C2745945 CLINVAR
  C3661900 CLINVAR
  CN239395 CLINVAR
  CN295869 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 153700 CLINVAR
  179605 CLINVAR
  608161 CLINVAR
OMIM Allele 179605.0012 CLINVAR
SNOMED CT 314407005 CLINVAR
  70099003 CLINVAR