RGD:8642857 Rat Genome Database

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Variant: RGD:8642857 -  Homo sapiens

RGD ID: 8642857
RS ID: rs77068026
ClinVar ID: CV101841
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B3  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 45,340,342
GRCh38 1 44,874,670
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_015864.1:g.117020T>G
NC_000001.11:g.44874670A>C
NC_000001.10:g.45340342A>C
NP_001160060.1:p.Ser404Ala
More... 		06/14/2016 intron|intron variant|missense variant benign|likely benign|conflicting interpretations of pathogenicity <1 / 1 000 000 AllHighlyPenetrant; 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:EIF2B3
Accession:NM_001166588
Location:EXON
Amino Acid Prediction: S to A (nonsynonymous)
Amino Acid Position: 404
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEFQAVVMAVGGGSRMTDLTSSIPKPLLPVGNKPLIWYPLNLLERVGFEEVIVVTTRDVQKALCAEFKMKMKPDIVCIPD
DADMGTADSLRYIYPKLKTDVLVLSCDLITDVALHEVVDLFRAYDASLAMLMRKGQDSIEPVPGQKGKKKAVEQRDFIGV
DSTGKRLLFMANEADLDEELVIKGSILQKHPRIRFHTGLVDAHLYCLKKYIVDFLMENGSITSIRSELIPYLVRKQFSSA
SSQQGQEEKEEDLKKKELKSLDIYSFIKEANTLNLAPYDACWNACRGDRWEDLSRSQVRCYVHIMKEGLCSRVSTLGLYM
EANRQVPKLLSALCPEEPPVHSSAQIVSKHLVGVDSLIGPETQIGEKSSIKRSVIGSSCLIKDRVTITNCLLMNSVTVEE
GYVAPCTHLRQR*

Gene Symbol:EIF2B3
Accession:XM_047433501
Location:INTRON

Gene Symbol:EIF2B3
Accession:NM_020365
Location:INTRON

Gene Symbol:EIF2B3
Accession:XM_047433500
Location:INTRON

Gene Symbol:EIF2B3
Accession:NM_001261418
Location:INTRON

Gene Symbol:EIF2B3
Accession:XM_047433499
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000081997 CLINVAR
  RCV000397648 CLINVAR
  RCV001521540 CLINVAR
dbSNP (RS) rs77068026 CLINVAR
MedGen C1858991 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene EIF2B3 CLINVAR
OMIM 603896 CLINVAR
  606273 CLINVAR
SNOMED CT 447351004 CLINVAR