RGD:8692640 Rat Genome Database

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Variant: RGD:8692640 -  Homo sapiens

RGD ID: 8692640
RS ID: rs390659
ClinVar ID: CV142607
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 42,666,164
GRCh38 6 42,698,426
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.42698426G>C
NC_000006.11:g.42666164G>C
NP_000313.2:p.Gln304Glu
NG_009176.1:g.29195C>G
More... 		10/01/2023 missense variant benign|likely benign adult AllHighlyPenetrant; Butterfly dystrophy of retinal pigment epithelium; Butterfly-shaped pigment dystrophy of the fovea; Choriodal Dystrophy, Central Areolar 2; Cone-rod degeneration; Cone/cone-rod dystrophy; FOVEOMACULAR DYSTROPHY, ADULT-ONSET; FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION; Fundus albipunctatus; Macular dystrophy, butterfly-shaped pigmentary; MACULAR DYSTROPHY, PROGRESSIVE; Macular dystrophy, vitelliform, adult-onset; PRPH2 vitelliform macular dystrophy; PRPH2-related condition; PRPH2-Related Disorders; RP 7; Tapetoretinal degeneration; vitelliform macular dystrophy caused by mutation in PRPH2
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: Q to E (nonsynonymous)
Amino Acid Position: 304
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESEGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

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

Variant Samples
Additional References at PubMed
PMID:16885924   PMID:25741868   PMID:28492532   PMID:31213501  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000153781 CLINVAR
  RCV000285041 CLINVAR
  RCV000288514 CLINVAR
  RCV000324837 CLINVAR
  RCV000339530 CLINVAR
  RCV000379504 CLINVAR
  RCV000391586 CLINVAR
  RCV001511185 CLINVAR
  RCV001789195 CLINVAR
  RCV001789196 CLINVAR
  RCV003888534 CLINVAR
dbSNP (RS) rs390659 CLINVAR
MedGen C0035334 CLINVAR
  C0311338 CLINVAR
  C0854723 CLINVAR
  C1842475 CLINVAR
  C1842914 CLINVAR
  C2751290 CLINVAR
  C4085590 CLINVAR
  C4551999 CLINVAR
  CN169374 CLINVAR
  CN239395 CLINVAR
  CN295869 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 120970 CLINVAR
  136880 CLINVAR
  169150 CLINVAR
  179605 CLINVAR
  268000 CLINVAR
  608133 CLINVAR
  608161 CLINVAR
  613105 CLINVAR
SNOMED CT 28835009 CLINVAR
  314407005 CLINVAR
  68222009 CLINVAR