RGD:11662306 Rat Genome Database

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Variant: RGD:11662306 -  Homo sapiens

RGD ID: 11662306
RS ID: rs886058213
ClinVar ID: CV294006
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B5  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 3 183,853,288
GRCh38 3 184,135,500
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_015826.1:g.5479C>G
NC_000003.12:g.184135500C>G
NC_000003.11:g.183853288C>G
NP_003898.2:p.Pro39Ala
More... 		06/14/2016 missense 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:EIF2B5
Accession:NM_003907
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEAPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGT
LQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVVLEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAA
DHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSED
D*

Gene Symbol:EIF2B5
Accession:XM_047449148
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 39
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEAPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHLLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGVRLNRLQSSRSRSCWQGLPLESCRHEHGGRGGTAAESVGTQDQHGRRE*

Gene Symbol:EIF2B5
Accession:XM_011513266
Location:INTRON

Gene Symbol:EIF2B5
Accession:XM_011513265
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000384990 CLINVAR
dbSNP (RS) rs886058213 CLINVAR
MedGen C1858991 CLINVAR
NCBI Gene EIF2B5 CLINVAR
  LOC129938041 CLINVAR
OMIM 603896 CLINVAR
  603945 CLINVAR
SNOMED CT 447351004 CLINVAR