RGD:11607303 Rat Genome Database

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Variant: RGD:11607303 -  Homo sapiens

RGD ID: 11607303
RS ID: rs533569725
ClinVar ID: CV316421
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 15,125,960
GRCh38 12 14,973,026
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016859.1:g.5005G>T
NC_000012.12:g.14973026G>T
NC_000012.11:g.15125960G>T
NM_006205.2:c.-102G>T
 06/14/2016 5 prime utr variant uncertain significance childhood 1-9 / 100 000 RETINAL CONE DYSTROPHY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000341610 CLINVAR
dbSNP (RS) rs533569725 CLINVAR
MedGen C1865869 CLINVAR
NCBI Gene PDE6H CLINVAR
OMIM 601190 CLINVAR
  602093 CLINVAR