RGD:127283012 Rat Genome Database

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Variant: RGD:127283012 -  Homo sapiens

RGD ID: 127283012
RS ID: rs2134599444
ClinVar ID: CV1099285
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6C  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 95,386,639
GRCh38 10 93,626,882
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.1071+11G>C
NG_016752.1:g.19295G>C
NC_000010.11:g.93626882G>C
NC_000010.10:g.95386639G>C
 09/04/2020 intron variant likely benign none provided

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001448212 CLINVAR
dbSNP (RS) rs2134599444 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene PDE6C CLINVAR
OMIM 600827 CLINVAR