RGD:156324293 Rat Genome Database

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Variant: RGD:156324293 -  Homo sapiens

RGD ID: 156324293
ClinVar ID: CV2108423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 42,689,991
GRCh38 6 42,722,253
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.82G>A
NG_009176.2:g.5368G>A
NC_000006.12:g.42722253C>T
NC_000006.11:g.42689991C>T
More... 		10/01/2023 missense variant uncertain significance PRPH2-related condition; PRPH2-Related Disorders
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: V to M (nonsynonymous)
Amino Acid Position: 28
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSMLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPFSCCNPSSPRPCIQYQITNNSAHYSYDHQT
EELNLWVRGCRAALLSYYSSLMNSMGVVTLLIWLFEVTITIGLRYLQTSLDGVSNPEESESESQGWLLERSVPETWKAFL
ESVKKLGKGNQVEAEGADAGQAPEAG*

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002937975 CLINVAR
  RCV003889183 CLINVAR
MedGen C0854723 CLINVAR
  CN239395 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
SNOMED CT 314407005 CLINVAR