RGD:12899132 Rat Genome Database

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Variant: RGD:12899132 -  Homo sapiens

RGD ID: 12899132
RS ID: rs1064795129
ClinVar ID: CV411304
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  LOC109610631  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 25,031,723
GRCh38 X 25,013,606
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.7343C>A
NC_000023.11:g.25013606G>T
NC_000023.10:g.25031723G>T
NP_620689.1:p.Pro130Gln
More... 		10/29/2019 missense variant likely benign|uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARX
Accession:NM_139058
Location:EXON
Amino Acid Prediction: P to Q (nonsynonymous)
Amino Acid Position: 130
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPQPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGSDSE
EGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000479507 CLINVAR
dbSNP (RS) rs1064795129 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene 109610631 CLINVAR
  ARX CLINVAR
OMIM 300382 CLINVAR