RGD:12839227 Rat Genome Database

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Variant: RGD:12839227 -  Homo sapiens

RGD ID: 12839227
RS ID: rs1057524733
ClinVar ID: CV378146
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 25,031,162
GRCh38 X 25,013,045
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.7904G>A
NC_000023.11:g.25013045C>T
NC_000023.10:g.25031162C>T
NP_620689.1:p.Ser317Asn
More... 		05/12/2018 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:ARX
Accession:NM_139058
Location:EXON
Amino Acid Prediction: S to N (nonsynonymous)
Amino Acid Position: 317
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNQYQEEGCSERPECKSKSPTLLSSYCIDSILGRRSPCKMRLLGAAQSLPAPLTSRADPEKAVQGSPKSSSAPFEAELH
LPPKLRRLYGPGGGRLLQGAAAAAAAAAAAAAAAATATAGPRGEAPPPPPPTARPGERPDGAGAAAAAAAAAAAAWDTLK
ISQAPQVSISRSKSYRENGAPFVPPPPALDELGGPGGVTHPEERLGVAGGPGSAPAAGGGTGTEDDEEELLEDEEDEDEE
EELLEDDEEELLEDDARALLKEPRRCPVAATGAVAAAAAAAVATEGGELSPKEELLLHPEDAEGKDGEDSVCLSAGNDSE
EGLLKRKQRRYRTTFTSYQLEELERAFQKTHYPDVFTREELAMRLDLTEARVQVWFQNRRAKWRKREKAGAQTHPPGLPF
PGPLSATHPLSPYLDASPFPPHHPALDSAWTAAAAAAAAAFPSLPPPPGSASLPPSGAPLGLSTFLGAAVFRHPAFISPA
FGRLFSTMAPLTSASTAAALLRQPTPAVEGAVASGALADPATAAADRRASSIAALRLKAKEHAAQLTQLNILPGTSTGKE
VC*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000428420 CLINVAR
dbSNP (RS) rs1057524733 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene ARX CLINVAR
OMIM 300382 CLINVAR