RGD:11550801 Rat Genome Database

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Variant: RGD:11550801 -  Homo sapiens

RGD ID: 11550801
RS ID: rs11187564
ClinVar ID: CV253919
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 95,395,245
GRCh38 10 93,635,488
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.27901C>T
NC_000010.11:g.93635488C>T
NC_000010.10:g.95395245C>T
NM_006204.4:c.1270-9C>T
More... 		06/14/2016 intron 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:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000252222 CLINVAR
  RCV000328542 CLINVAR
  RCV000376231 CLINVAR
  RCV001521620 CLINVAR
dbSNP (RS) rs11187564 CLINVAR
MedGen C0152200 CLINVAR
  C2751308 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
  613093 CLINVAR
SNOMED CT 56852002 CLINVAR