RGD:28909077 Rat Genome Database

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Variant: RGD:28909077 -  Homo sapiens

RGD ID: 28909077
RS ID: rs945949866
ClinVar ID: CV896984
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ELOVL4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 80,626,162
GRCh38 6 79,916,445
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022726.4:c.*163C>T
NG_009108.2:g.36154C>T
NC_000006.12:g.79916445G>A
NC_000006.11:g.80626162G>A
More... 		01/12/2018 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 RCV001160412 CLINVAR
dbSNP (RS) rs945949866 CLINVAR
MedGen C1838644 CLINVAR
NCBI Gene ELOVL4 CLINVAR
OMIM 600110 CLINVAR
  605512 CLINVAR