RGD:11591383 Rat Genome Database

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Variant: RGD:11591383 -  Homo sapiens

RGD ID: 11591383
RS ID: rs530695084
ClinVar ID: CV295342
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDE6B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 628,461
GRCh38 4 634,672
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000283.3:c.469-5G>A
NG_009839.1:g.14099G>A
NC_000004.12:g.634672G>A
NC_000004.11:g.628461G>A
More... 		09/23/2019 intron variant uncertain significance NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE; 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:PDE6B
Accession:XM_047415773
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_011513473
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001350155
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_047415774
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_000283
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_047415776
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_047415777
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001145292
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001379246
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_047415775
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001145291
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001379247
Location:INTRON

Gene Symbol:PDE6B
Accession:NM_001350154
Location:INTRON

Gene Symbol:PDE6B
Accession:XM_047415772
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000328623 CLINVAR
  RCV000380720 CLINVAR
  RCV001205191 CLINVAR
dbSNP (RS) rs530695084 CLINVAR
MedGen C0035334 CLINVAR
  C1876182 CLINVAR
  C3661900 CLINVAR
NCBI Gene PDE6B CLINVAR
OMIM 163500 CLINVAR
  180072 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR