RGD:26895231 Rat Genome Database

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Variant: RGD:26895231 -  Homo sapiens

RGD ID: 26895231
RS ID: rs748977292
ClinVar ID: CV852289
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EYS  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 65,146,161
GRCh38 6 64,436,268
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142800.2:c.5836-3C>T
NG_023443.2:g.1275958C>T
NC_000006.12:g.64436268G>A
NC_000006.11:g.65146161G>A
More... 		07/28/2020 intron variant uncertain significance none provided; RP 25
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EYS
Accession:NM_001292009
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142800
Location:INTRON

Gene Symbol:EYS
Accession:NM_198283
Location:INTRON

Gene Symbol:EYS
Accession:NM_001142801
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001063920 CLINVAR
  RCV001833625 CLINVAR
dbSNP (RS) rs748977292 CLINVAR
MedGen C1864446 CLINVAR
  CN517202 CLINVAR
NCBI Gene EYS CLINVAR
OMIM 602772 CLINVAR
  612424 CLINVAR