RGD:15184729 Rat Genome Database

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Variant: RGD:15184729 -  Homo sapiens

RGD ID: 15184729
RS ID: rs144864475
ClinVar ID: CV730198
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B5  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 183,861,882
GRCh38 3 184,144,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_003907.3:c.1870-5C>A
NG_015826.1:g.14073C>A
NC_000003.12:g.184144094C>A
NC_000003.11:g.183861882C>A
More... 		04/07/2022 intron variant benign|likely benign|uncertain significance CACH syndrome; CACH/VWM syndrome; Childhood ataxia with diffuse central nervous system hypomyelination; Cree leukoencehalopathy; Leukoencephalopathy with vanishing white matter; Myelinosis centralis diffusa; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EIF2B5
Accession:XM_047449148
Location:INTRON

Gene Symbol:EIF2B5
Accession:XM_011513265
Location:INTRON

Gene Symbol:EIF2B5
Accession:XM_011513266
Location:INTRON

Gene Symbol:EIF2B5
Accession:NM_003907
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000886513 CLINVAR
  RCV001273459 CLINVAR
dbSNP (RS) rs144864475 CLINVAR
MedGen C1858991 CLINVAR
  C3661900 CLINVAR
NCBI Gene EIF2B5 CLINVAR
OMIM 603896 CLINVAR
  603945 CLINVAR
SNOMED CT 447351004 CLINVAR