RGD:26909742 Rat Genome Database

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Variant: RGD:26909742 -  Homo sapiens

RGD ID: 26909742
RS ID: rs2058399145
ClinVar ID: CV856690
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 95,372,733
GRCh38 10 93,612,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006204.4:c.251T>C
NG_016752.1:g.5389T>C
NC_000010.11:g.93612976T>C
NC_000010.10:g.95372733T>C
More... 		06/01/2018 missense variant likely pathogenic
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDE6C
Accession:NM_006204
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 84
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESALCLELLWTVQEEGGTPEQGV
HRAPQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPTSKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKK
NSHFSDFMDKQTGYVTKNLLATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRS
QILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGEVEPYKGPKTPDGREVNFYKI
IDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICNMMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIV
GVATFYNRKDGKPFDEHDEYITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVD
VIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFEINVVEKFKVPVEVLTRWMYTVRKGYRAVT
YHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAFCHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKT
LLQDESLNIFQNLNKRQFETVIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMT
ACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFIDFVCTFVYKEFSRFHKEITP
MLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKAAEDSGGGDDKKSKTCLML*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001073910 CLINVAR
dbSNP (RS) rs2058399145 CLINVAR
MedGen C0854723 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
SNOMED CT 314407005 CLINVAR