RGD:11606463 Rat Genome Database

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Variant: RGD:11606463 -  Homo sapiens

RGD ID: 11606463
RS ID: rs181146743
ClinVar ID: CV308507
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYS  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 66,349,752
GRCh38 6 65,639,859
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023443.2:g.72367G>A
NC_000006.12:g.65639859C>T
NC_000006.11:g.66349752C>T
NM_001142800.2:c.-414G>A
More... 		11/20/2020 5 prime utr variant benign|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:EYS
Accession:NM_001142801
Location:5UTRS;EXON

Gene Symbol:EYS
Accession:NM_001142800
Location:5UTRS;EXON

Gene Symbol:EYS
Accession:NM_001292009
Location:5UTRS;EXON

Gene Symbol:EYS
Accession:NM_198283
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000332069 CLINVAR
  RCV001519796 CLINVAR
dbSNP (RS) rs181146743 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene EYS CLINVAR
OMIM 268000 CLINVAR
  612424 CLINVAR
SNOMED CT 28835009 CLINVAR