RGD:126728602 Rat Genome Database

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Variant: RGD:126728602 -  Homo sapiens

RGD ID: 126728602
RS ID: rs1480629640
ClinVar ID: CV1018976
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  LOC109610631  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 25,031,733
GRCh38 X 25,013,616
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.379C>T
NG_052655.1:g.187G>A
NM_139058.2:c.379C>T
NG_008281.1:g.7333C>T
More... 		05/01/2019 missense variant uncertain significance Lissencephaly 2, X-linked
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 T (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPTPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSE
EGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001332906 CLINVAR
dbSNP (RS) rs1480629640 CLINVAR
MedGen C1846171 CLINVAR
NCBI Gene ARX CLINVAR
  LOC109610631 CLINVAR
OMIM 300215 CLINVAR
  300382 CLINVAR