RGD:26920603 Rat Genome Database

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Variant: RGD:26920603 -  Homo sapiens

RGD ID: 26920603
RS ID: rs2048711460
ClinVar ID: CV849918
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 25,031,559
GRCh38 X 25,013,442
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_139058.3:c.553C>T
NG_052655.1:g.13G>A
NG_008281.1:g.7507C>T
NC_000023.11:g.25013442G>A
More... 		01/31/2019 missense variant uncertain significance 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; 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: P to S (nonsynonymous)
Amino Acid Position: 185
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPSPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSE
EGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001048046 CLINVAR
dbSNP (RS) rs2048711460 CLINVAR
MedGen C3463992 CLINVAR
NCBI Gene ARX CLINVAR
OMIM 300382 CLINVAR
  300419 CLINVAR
  300504 CLINVAR
  308350 CLINVAR