RGD:13785575 Rat Genome Database

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Variant: RGD:13785575 -  Homo sapiens

RGD ID: 13785575
RS ID: rs200387978
ClinVar ID: CV543956
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 66,063,346
GRCh38 6 65,353,453
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.65353453G>A
NG_023443.2:g.358773C>T
NM_001292009.2:c.1459+5C>T
NM_198283.2:c.1459+5C>T
More... 		12/31/2019 intron variant likely pathogenic|uncertain significance Fundus flavimaculatus; none provided; RP 25; Stargardt's disease; 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:EYS
Accession:NM_198283
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142800
Location:INTRON

Gene Symbol:EYS
Accession:NM_001292009
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142801
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:23591405   PMID:25133751   PMID:28492532   PMID:30718709  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000667100 CLINVAR
  RCV000762420 CLINVAR
  RCV000787832 CLINVAR
  RCV001162942 CLINVAR
dbSNP (RS) rs200387978 CLINVAR
MedGen C0035334 CLINVAR
  C0271093 CLINVAR
  C1864446 CLINVAR
  C3661900 CLINVAR
NCBI Gene EYS CLINVAR
OMIM 268000 CLINVAR
  602772 CLINVAR
  612424 CLINVAR
SNOMED CT 28835009 CLINVAR
  70099003 CLINVAR