RGD:8563540 Rat Genome Database

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Variant: RGD:8563540 -  Homo sapiens

RGD ID: 8563540
RS ID: rs61755793
ClinVar ID: CV28206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 42,689,558
GRCh38 6 42,721,820
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
NC_000006.12:g.42721820C>T
NC_000006.11:g.42689558C>T
NP_000313.2:p.Arg172Gln
NG_009176.2:g.5801G>A
More... 		10/23/2020 missense|missense variant pathogenic|not provided adulthood 1-9 / 100 000 Choriodal Dystrophy, Central Areolar 2; Fundus flavimaculatus; MACULAR DYSTROPHY, PROGRESSIVE; none provided; PRPH2 vitelliform macular dystrophy; PRPH2-related condition; PRPH2-Related Disorders; Stargardt's disease; Tapetoretinal degeneration; vitelliform macular dystrophy caused by mutation in PRPH2
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: R to Q (nonsynonymous)
Amino Acid Position: 172
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFQDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

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

Variant Samples
Additional References at PubMed
PMID:8302543   PMID:8485576   PMID:9443872   PMID:10532447   PMID:19038374   PMID:19243827   PMID:22003107   PMID:25082885   PMID:25741868   PMID:28492532   PMID:28559085   PMID:29555955  
PMID:30718709   PMID:32531846  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014053 CLINVAR
  RCV000084982 CLINVAR
  RCV000787663 CLINVAR
  RCV000787664 CLINVAR
  RCV001054658 CLINVAR
  RCV001074392 CLINVAR
  RCV001250353 CLINVAR
  RCV001250367 CLINVAR
  RCV001799605 CLINVAR
dbSNP (RS) rs61755793 CLINVAR
MedGen C0035334 CLINVAR
  C0271093 CLINVAR
  C0730292 CLINVAR
  C0854723 CLINVAR
  C1868569 CLINVAR
  C2751290 CLINVAR
  C3661900 CLINVAR
  CN239395 CLINVAR
  CN295869 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
  268000 CLINVAR
  608161 CLINVAR
  613105 CLINVAR
OMIM Allele 179605.0006 CLINVAR
SNOMED CT 28835009 CLINVAR
  314407005 CLINVAR
  70099003 CLINVAR