RGD:11596196 Rat Genome Database

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Variant: RGD:11596196 -  Homo sapiens

RGD ID: 11596196
RS ID: rs763271934
ClinVar ID: CV297860
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 186,064,481
GRCh38 4 185,143,327
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001151.3:c.-46G>A
NG_013001.1:g.5065G>A
NC_000004.12:g.185143327G>A
NC_000004.11:g.186064481G>A
More... 		06/14/2016 5 prime utr variant uncertain significance PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:SLC25A4
Accession:NM_001151
Location:5UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000379443 CLINVAR
dbSNP (RS) rs763271934 CLINVAR
MedGen C1836460 CLINVAR
NCBI Gene LOC129993501 CLINVAR
  SLC25A4 CLINVAR
OMIM 103220 CLINVAR
  609283 CLINVAR