RGD:9589782 Rat Genome Database

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Variant: RGD:9589782 -  Homo sapiens

RGD ID: 9589782
RS ID: rs587783141
ClinVar ID: CV166526
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 25,031,310
GRCh38 X 25,013,193
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008281.1:g.7756G>T
NC_000023.11:g.25013193C>A
NC_000023.10:g.25031310C>A
NP_620689.1:p.Val268Leu
More... 		12/31/2019 missense variant benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; Epileptic encephalopathy, early infantile, 1; INFANTILE SPASM SYNDROME, X-LINKED 1; INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 29; Intellectual disability, X-linked, with or without seizures, arx-related; MENTAL RETARDATION, X-LINKED 29; MENTAL RETARDATION, X-LINKED 32; MENTAL RETARDATION, X-LINKED 33; MENTAL RETARDATION, X-LINKED 38; MENTAL RETARDATION, X-LINKED 43; Mental retardation, X-linked 52; MENTAL RETARDATION, X-LINKED 76; MENTAL RETARDATION, X-LINKED 87; none provided; OHTAHARA SYNDROME, X-LINKED; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-Linked Infantile Spasm Syndrome; X-linked infantile spasms
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARX
Accession:NM_139058
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 268
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPLAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSE
EGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000144815 CLINVAR
  RCV000650188 CLINVAR
  RCV001088857 CLINVAR
  RCV002408644 CLINVAR
  RCV003927416 CLINVAR
dbSNP (RS) rs587783141 CLINVAR
MedGen C0950123 CLINVAR
  C3463992 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene ARX CLINVAR
OMIM 300382 CLINVAR
  300419 CLINVAR
  300504 CLINVAR
  308350 CLINVAR