RGD:11591353 Rat Genome Database

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Variant: RGD:11591353 -  Homo sapiens

RGD ID: 11591353
RS ID: rs146922950
ClinVar ID: CV290384
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 183,853,071
GRCh38 3 184,135,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000003.12:g.184135283C>G
NC_000003.11:g.183853071C>G
NM_003907.2:c.-103C>G
NG_015826.1:g.5262C>G
More... 		06/14/2016 5 prime utr variant uncertain significance <1 / 1 000 000 CACH syndrome; CACH/VWM syndrome; Childhood ataxia with diffuse central nervous system hypomyelination; Cree leukoencehalopathy; Leukoencephalopathy with vanishing white matter; Myelinosis centralis diffusa
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:
Accession:
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000328087 CLINVAR
dbSNP (RS) rs146922950 CLINVAR
MedGen C1858991 CLINVAR
NCBI Gene EIF2B5 CLINVAR
  LOC129938040 CLINVAR
OMIM 603896 CLINVAR
  603945 CLINVAR
SNOMED CT 447351004 CLINVAR