RGD:11596302 Rat Genome Database

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Variant: RGD:11596302 -  Homo sapiens

RGD ID: 11596302
RS ID: rs542722575
ClinVar ID: CV301154
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 6 80,625,522
GRCh38 6 79,915,805
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022726.3:c.*803T>C
NC_000006.12:g.79915805A>G
NC_000006.11:g.80625522A>G
NG_009108.1:g.36794T>C
More... 		06/14/2016 3 prime utr variant uncertain significance MACULAR DYSTROPHY WITH FLECKS, TYPE 3; STARGARDT-LIKE MACULAR DYSTROPHY, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ELOVL4
Accession:NM_022726
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000380474 CLINVAR
dbSNP (RS) rs542722575 CLINVAR
MedGen C1838644 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 600110 CLINVAR
  605512 CLINVAR