RGD:21405108 Rat Genome Database

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Variant: RGD:21405108 -  Homo sapiens

RGD ID: 21405108
RS ID: rs766703340
ClinVar ID: CV800562
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 95,399,939
GRCh38 10 93,640,182
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NP_006195.3:p.Ile532Arg
NM_006204.4:c.1595T>G
NG_016752.1:g.32595T>G
NC_000010.11:g.93640182T>G
More... 		06/23/2019 missense variant likely pathogenic Rod monochromatism
Disease Annotations     Click to see Annotation Detail View
achromatopsia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Achromatopsia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:PDE6C
Accession:NM_006204
Location:EXON
Amino Acid Prediction: I to R (nonsynonymous)
Amino Acid Position: 532
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESALCLELLWTVQEEGGTPEQGV
HRALQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPTSKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKK
NSHFSDFMDKQTGYVTKNLLATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRS
QILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGEVEPYKGPKTPDGREVNFYKI
IDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICNMMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIV
GVATFYNRKDGKPFDEHDEYITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVD
VIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFERNVVEKFKVPVEVLTRWMYTVRKGYRAVT
YHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAFCHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKT
LLQDESLNIFQNLNKRQFETVIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMT
ACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFIDFVCTFVYKEFSRFHKEITP
MLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKAAEDSGGGDDKKSKTCLML*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001003118 CLINVAR
dbSNP (RS) rs766703340 CLINVAR
MedGen C0152200 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
SNOMED CT 56852002 CLINVAR