RGD:10048151 Rat Genome Database

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Variant: RGD:10048151 -  Homo sapiens

RGD ID: 10048151
RS ID: rs113994048
ClinVar ID: CV192364
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2B5  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 183,854,522
GRCh38 3 184,136,734
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_015826.1:g.6713A>T
NC_000003.12:g.184136734A>T
NC_000003.11:g.183854522A>T
NP_003898.2:p.Leu106Phe
More... 		04/09/2022 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance childhood <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; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:EIF2B5
Accession:NM_003907
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHFLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGYNPAEVGAAGKGYLWKAAGMNMEEEEELQQNLWGLKINMEEESESESEQSMDSEEPDSRGGSPQMDDIKVFQNEVLGT
LQRGKEENISCDNLVLEINSLKYAYNISLKEVMQVLSHVVLEFPLQQMDSPLDSSRYCALLLPLLKAWSPVFRNYIKRAA
DHLEALAAIEDFFLEHEALGISMAKVLMAFYQLEILAEETILSWFSQRDTTDKGQQLRKNQQLQRFIQWLKEAEEESSED
D*

Gene Symbol:EIF2B5
Accession:XM_047449148
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 106
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAPVVAPPGVVVSRANKRSGAGPGGSGGGGARGAEEEPPPPLQAVLVADSFDRRFFPISKDQPRVLLPLANVALIDYTL
EFLTATGVQETFVFCCWKAAQIKEHFLKSKWCRPTSLNVVRIITSELYRSLGDVLRDVDAKALVRSDFLLVYGDVISNIN
ITRALEEHRLRRKLEKNVSVMTMIFKESSPSHPTRCHEDNVVVAVDSTTNRVLHFQKTQGLRRFAFPLSLFQGSSDGVEV
RYDLLDCHISICSPQVAQLFTDNFDYQTRDDFVRGLLVNEEILGNQIHMHVTAKEYGARVSNLHMYSAVCADVIRRWVYP
LTPEANFTDSTTQSCTHSRHNIYRGPEVSLGHGSILEENVLLGSGTVIGSNCFITNSVIGPGCHIGDNVVLDQTYLWQGV
RVAAGAQIHQSLLCDNAEVKERVTLKPRSVLTSQVVVGPNITLPEGSVISLHPPDAEEDEDDGEFSDDSGADQEKDKVKM
KGVRLNRLQSSRSRSCWQGLPLESCRHEHGGRGGTAAESVGTQDQHGRRE*

Gene Symbol:EIF2B5
Accession:XM_011513266
Location:INTRON

Gene Symbol:EIF2B5
Accession:XM_011513265
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11704758   PMID:14993275   PMID:25089094   PMID:25326635   PMID:25741868   PMID:28492532   PMID:31418856  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000175759 CLINVAR
  RCV000624816 CLINVAR
  RCV000724783 CLINVAR
dbSNP (RS) rs113994048 CLINVAR
MedGen C0950123 CLINVAR
  C1858991 CLINVAR
  C3661900 CLINVAR
NCBI Gene EIF2B5 CLINVAR
OMIM 603896 CLINVAR
  603945 CLINVAR
SNOMED CT 447351004 CLINVAR