RGD:11558887 Rat Genome Database

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Variant: RGD:11558887 -  Homo sapiens

RGD ID: 11558887
RS ID: rs886040856
ClinVar ID: CV262085
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EIF2S3  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 24,084,119
GRCh38 X 24,066,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016387.1:g.16055T>G
NC_000023.11:g.24066002T>G
NC_000023.10:g.24084119T>G
NP_001406.1:p.Ile259Met
More... 		01/18/2018 missense variant pathogenic Mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity; MENTAL RETARDATION, X-LINKED, SYNDROMIC 20; MENTAL RETARDATION, X-LINKED, SYNDROMIC 25; Mental retardation, X-linked, syndromic, Borck type; X-linked MEHMO syndrome
Disease Annotations     Click to see Annotation Detail View
MEHMO syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:EIF2S3
Accession:NM_001415
Location:EXON
Amino Acid Prediction: I to M (nonsynonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGGEAGVTLGQPHLSRQDLTTLDVTKLTPLSHEVISRQATINIGTIGHVAHGKSTVVKAISGVHTVRFKNELERNITIK
LGYANAKIYKLDDPSCPRPECYRSCGSSTPDEFPTDIPGTKGNFKLVRHVSFVDCPGHDILMATMLNGAAVMDAALLLIA
GNESCPQPQTSEHLAAIEIMKLKHILILQNKIDLVKESQAKEQYEQILAFVQGTVAEGAPIIPISAQLKYNIEVVCEYIV
KKIPVPPRDFTSEPRLIVMRSFDVNKPGCEVDDLKGGVAGGSILKGVLKVGQEIEVRPGIVSKDSEGKLMCKPIFSKIVS
LFAEHNDLQYAAPGGLIGVGTKIDPTLCRADRMVGQVLGAVGALPEIFTELEISYFLLRRLLGVRTEGDKKAAKVQKLSK
NEVLMVNIGSLSTGGRVSAVKADLGKIVLTNPVCTEVGEKIALSRRVEKHWRLIGWGQIRRGVTIKPTVDDD*
Variant Samples
Additional References at PubMed
PMID:27333055  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000257991 CLINVAR
dbSNP (RS) rs886040856 CLINVAR
MedGen C1846278 CLINVAR
NCBI Gene EIF2S3 CLINVAR
OMIM 300148 CLINVAR
  300161 CLINVAR
  300987 CLINVAR
OMIM Allele 300161.0002 CLINVAR