RGD:28882476 Rat Genome Database

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Variant: RGD:28882476 -  Homo sapiens

RGD ID: 28882476
RS ID: rs753110221
ClinVar ID: CV890512
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SLC25A4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 4 186,070,488
GRCh38 4 185,149,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013001.1:g.11072G>A
NC_000004.12:g.185149334G>A
NC_000004.11:g.186070488G>A
NM_001151.3:c.*2363G>A
More...
04/27/2017 3 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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001149956 CLINVAR
dbSNP (RS) rs753110221 CLINVAR
MedGen C1836460 CLINVAR
NCBI Gene SLC25A4 CLINVAR
OMIM 103220 CLINVAR
  609283 CLINVAR