RGD:11544605 Rat Genome Database

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Variant: RGD:11544605 -  Homo sapiens

RGD ID: 11544605
RS ID: rs3737228
ClinVar ID: CV253921
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 95,395,364
GRCh38 10 93,635,607
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016752.1:g.28020C>G
NC_000010.11:g.93635607C>G
NC_000010.10:g.95395364C>G
NP_006195.3:p.Thr460=
More... 		12/02/2020 synonymous variant benign|likely benign AllHighlyPenetrant; none provided; Rod monochromatism
Disease Annotations     Click to see Annotation Detail View

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: T to T (synonymous)
Amino Acid Position: 460
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGEINQVAVEKYLEENPQFAKEYFDRKLRVEVLGEIFKNSQVPVQSSMSFSELTQVEESALCLELLWTVQEEGGTPEQGV
HRALQRLAHLLQADRCSMFLCRSRNGIPEVASRLLDVTPTSKFEDNLVGPDKEVVFPLDIGIVGWAAHTKKTHNVPDVKK
NSHFSDFMDKQTGYVTKNLLATPIVVGKEVLAVIMAVNKVNASEFSKQDEEVFSKYLNFVSIILRLHHTSYMYNIESRRS
QILMWSANKVFEELTDVERQFHKALYTVRSYLNCERYSIGLLDMTKEKEFYDEWPIKLGEVEPYKGPKTPDGREVNFYKI
IDYILHGKEEIKVIPTPPADHWTLISGLPTYVAENGFICNMMNAPADEYFTFQKGPVDETGWVIKNVLSLPIVNKKEDIV
GVATFYNRKDGKPFDEHDEYITETLTQFLGWSLLNTDTYDKMNKLENRKDIAQEMLMNQTKATPEEIKSILKFQEKLNVD
VIDDCEEKQLVAILKEDLPDPRSAELYEFRFSDFPLTEHGLIKCGIRLFFEINVVEKFKVPVEVLTRWMYTVRKGYRAVT
YHNWRHGFNVGQTMFTLLMTGRLKKYYTDLEAFAMLAAAFCHDIDHRGTNNLYQMKSTSPLARLHGSSILERHHLEYSKT
LLQDESLNIFQNLNKRQFETVIHLFEVAIIATDLALYFKKRTMFQKIVDACEQMQTEEEAIKYVTVDPTKKEIIMAMMMT
ACDLSAITKPWEVQSQVALMVANEFWEQGDLERTVLQQQPIPMMDRNKRDELPKLQVGFIDFVCTFVYKEFSRFHKEITP
MLSGLQNNRVEWKSLADEYDAKMKVIEEEAKKQEGGAEKAAEDSGGGDDKKSKTCLML*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000244014 CLINVAR
  RCV000278315 CLINVAR
  RCV000379751 CLINVAR
  RCV001510622 CLINVAR
dbSNP (RS) rs3737228 CLINVAR
MedGen C0152200 CLINVAR
  C2751308 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
  613093 CLINVAR
SNOMED CT 56852002 CLINVAR