RGD:150335473 Rat Genome Database

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Variant: RGD:150335473 -  Homo sapiens

RGD ID: 150335473
RS ID: rs2152005352
ClinVar ID: CV1164690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PRPH2  
Reference Nucleotide: -
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 42,672,299
GRCh38 6 42,704,561
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.11:g.42672299_42672300insT
NG_009176.2:g.23059_23060insA
NC_000006.12:g.42704561_42704562insT
NP_000313.2:p.Phe211fs
More... 		10/01/2023 frameshift variant pathogenic|likely pathogenic none provided; 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: F to L (nonsynonymous)
Amino Acid Position: 211
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MALLKVKFDQKKRVKLAQGLWLMNWFSVLAGIIIFSLGLFLKIELRKRSDVMNNSESHFVPNSLIGMGVLSCVFNSLAGK
ICYDALDPAKYARWKPWLKPYLAICVLFNIILFLVALCCFLLRGSLENTLGQGLKNGMKYYRDTDTPGRCFMKKTIDMLQ
IEFKCCGNNGFRDWFEIQWISNRYLDFSSKEVKDRIKSNVDGRYLVDGVPLSCCNPSSPRPCIQYQITNNSAHYSYDHQT
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:25675413   PMID:26061163   PMID:27365499   PMID:28492532   PMID:29555955   PMID:31213501  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001530318 CLINVAR
  RCV002568178 CLINVAR
  RCV003888298 CLINVAR
dbSNP (RS) rs2152005352 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
  CN239395 CLINVAR
NCBI Gene PRPH2 CLINVAR
OMIM 179605 CLINVAR
SNOMED CT 314407005 CLINVAR