RGD:25314679 Rat Genome Database

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Variant: RGD:25314679 -  Homo sapiens

RGD ID: 25314679
RS ID: rs1589704707
ClinVar ID: CV818285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 95,415,619
GRCh38 10 93,655,862
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006204.4:c.2036+2T>G
NG_016752.1:g.48275T>G
NC_000010.10:g.95415619T>G
NC_000010.11:g.93655862T>G
 03/13/2019 splice donor variant pathogenic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDE6C
Accession:NM_006204
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001029756 CLINVAR
dbSNP (RS) rs1589704707 CLINVAR
MedGen C2751308 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR
  613093 CLINVAR