RGD:26909713 Rat Genome Database

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Variant: RGD:26909713 -  Homo sapiens

RGD ID: 26909713
RS ID: rs986748364
ClinVar ID: CV801389
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 42,672,278
GRCh38 6 42,704,540
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000322.5:c.653C>A
NG_009176.2:g.23081C>A
NC_000006.12:g.42704540G>T
NC_000006.11:g.42672278G>T
More... 		03/29/2022 nonsense pathogenic|likely pathogenic none provided; PRPH2-related condition; PRPH2-Related Disorders; Tapetoretinal degeneration
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: S to * (nonsynonymous)
Amino Acid Position: 218
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPS*PRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

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

Variant Samples
Additional References at PubMed
PMID:8111389   PMID:8485575   PMID:8485576   PMID:8675410   PMID:16916875   PMID:17504850   PMID:22863181   PMID:25675413   PMID:25741868   PMID:26061163   PMID:27365499   PMID:28492532  
PMID:29555955   PMID:32531846   PMID:33546218  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001073873 CLINVAR
  RCV001093085 CLINVAR
  RCV001199523 CLINVAR
  RCV001202274 CLINVAR
  RCV001250377 CLINVAR
dbSNP (RS) rs986748364 CLINVAR
MedGen C0035334 CLINVAR
  C0854723 CLINVAR
  C1868569 CLINVAR
  C3661900 CLINVAR
  CN239395 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR
  314407005 CLINVAR