RGD:21071276 Rat Genome Database

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Variant: RGD:21071276 -  Homo sapiens

RGD ID: 21071276
RS ID: rs958193703
ClinVar ID: CV790369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B5  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 183,855,494
GRCh38 3 184,137,706
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.183855494G>A
NG_015826.1:g.7685G>A
NC_000003.12:g.184137706G>A
LRG_1278:g.7685G>A
More... 		05/28/2019 missense variant pathogenic 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:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLHDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGVRLNRLQSSRSRSCWQGLPLESCRHEHGGRGGTAAESVGTQDQHGRRE*

Gene Symbol:EIF2B5
Accession:NM_003907
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLHDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGT
LQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVVLEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAA
DHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSED
D*

Gene Symbol:EIF2B5
Accession:XM_011513265
Location:INTRON

Gene Symbol:EIF2B5
Accession:XM_011513266
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16041584   PMID:20826436   PMID:20958979   PMID:21560189   PMID:22073122   PMID:25230711   PMID:25741868   PMID:28306143   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000987370 CLINVAR
  RCV001385130 CLINVAR
  RCV003928634 CLINVAR
dbSNP (RS) rs958193703 CLINVAR
MedGen C1858991 CLINVAR
  C3661900 CLINVAR
NCBI Gene EIF2B5 CLINVAR
OMIM 603896 CLINVAR
  603945 CLINVAR
SNOMED CT 447351004 CLINVAR