RGD:8562249 Rat Genome Database

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Variant: RGD:8562249 -  Homo sapiens

RGD ID: 8562249
RS ID: rs104894745
ClinVar ID: CV26239
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 25,031,114
GRCh38 X 25,012,997
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_008281.1:g.7952C>A
NC_000023.11:g.25012997G>T
NC_000023.10:g.25031114G>T
NP_620689.1:p.Thr333Asn
More... 		10/31/2013 missense|missense variant pathogenic neonatal/infancy ACC with abnormal genitalia; New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum; none provided; Proud Levine Carpenter syndrome; Proud syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARX
Accession:NM_139058
Location:EXON
Amino Acid Prediction: T to N (nonsynonymous)
Amino Acid Position: 333
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSE
EGLLKRKQRRYRNTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples
Additional References at PubMed
PMID:1605226   PMID:14722918   PMID:18414213   PMID:22252899  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011951 CLINVAR
  RCV000145066 CLINVAR
dbSNP (RS) rs104894745 CLINVAR
MedGen C0796124 CLINVAR
  CN517202 CLINVAR
NCBI Gene ARX CLINVAR
OMIM 300004 CLINVAR
  300382 CLINVAR
OMIM Allele 300382.0015 CLINVAR