RGD:11608256 Rat Genome Database

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Variant: RGD:11608256 -  Homo sapiens

RGD ID: 11608256
RS ID: rs373290960
ClinVar ID: CV323327
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 95,405,808
GRCh38 10 93,646,051
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.38464C>T
NC_000010.11:g.93646051C>T
NC_000010.10:g.95405808C>T
NM_006204.4:c.1935+4C>T
More... 		11/18/2019 intron variant uncertain significance 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:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000352726 CLINVAR
  RCV000391351 CLINVAR
  RCV001231841 CLINVAR
dbSNP (RS) rs373290960 CLINVAR
MedGen C0152200 CLINVAR
  C2751308 CLINVAR
  C3661900 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
  613093 CLINVAR
SNOMED CT 56852002 CLINVAR