RGD:11626870 Rat Genome Database

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Variant: RGD:11626870 -  Homo sapiens

RGD ID: 11626870
RS ID: rs200091367
ClinVar ID: CV346133
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CYGB  PRCD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 17 74,536,584
GRCh38 17 76,540,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016702.1:g.17917C>G
NC_000017.11:g.76540502C>G
NC_000017.10:g.74536584C>G
NM_001077620.3:c.75-3C>G
More... 		06/14/2016 intron variant uncertain significance none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CYGB
Accession:XM_017024116
Location:5UTRS;INTRON

Gene Symbol:PRCD
Accession:XM_017025014
Location:INTRON

Gene Symbol:PRCD
Accession:XM_017025013
Location:INTRON

Gene Symbol:PRCD
Accession:XM_017025015
Location:INTRON

Gene Symbol:CYGB
Accession:NM_134268
Location:INTRON

Gene Symbol:PRCD
Accession:XM_047436657
Location:INTRON

Gene Symbol:PRCD
Accession:XM_047436658
Location:INTRON

Gene Symbol:PRCD
Accession:NM_001077620
Location:INTRON

Gene Symbol:CYGB
Accession:XM_005257005
Location:INTRON

Gene Symbol:PRCD
Accession:XM_047436659
Location:INTRON

Gene Symbol:PRCD
Accession:NR_033357
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000270980 CLINVAR
  RCV001372001 CLINVAR
dbSNP (RS) rs200091367 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene CYGB CLINVAR
  PRCD CLINVAR
OMIM 268000 CLINVAR
  608759 CLINVAR
  610598 CLINVAR
SNOMED CT 28835009 CLINVAR