RGD:8568313 Rat Genome Database

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Variant: RGD:8568313 -  Homo sapiens

RGD ID: 8568313
RS ID: rs387906867
ClinVar ID: CV39337
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SIX3  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 45,169,628
GRCh38 2 44,942,489
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016222.1:g.5592G>T
NC_000002.12:g.44942489G>T
NC_000002.11:g.45169628G>T
NP_005404.1:p.Glu129Ter
More... 		09/28/2011 2kb upstream variant|nonsense|stop-gain pathogenic antenatal|neonatal/infancy 1-5 / 10 000|1-9 / 100 000
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Schizencephaly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:SIX3
Accession:NM_005413
Location:EXON
Amino Acid Prediction: E to * (nonsynonymous)
Amino Acid Position: 129
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVFRSPLDLYSSHFLLPNFADSHHRSILLASSGGGNGAGGGGGAGGGSGGGNGAGGGGAGGAGGGGGGGSRAPPEELSMF
QLPTLNFSPEQVASVCETLEETGDIERLGRFLWSLPVAPGACEAINKH*SILRARAVVAFHTGNFRDLYHILENHKFTKE
SHGKLQAMWLEAHYQEAEKLRGRPLGPVDKYRVRKKFPLPRTIWDGEQKTHCFKERTRSLLREWYLQDPYPNPSKKRELA
QATGLTPTQVGNWFKNRRQRDRAAAAKNRLQHQAIGPSGMRSLAEPGCPTHGSAESPSTAASPTTSVSSLTERADTGTSI
LSVTSSDSECDV*
Variant Samples
Additional References at PubMed
PMID:18791198   PMID:19346217   PMID:20157829  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000023328 CLINVAR
  RCV000023329 CLINVAR
dbSNP (RS) rs387906867 CLINVAR
MedGen C0266484 CLINVAR
  C1834877 CLINVAR
NCBI Gene SIX3 CLINVAR
OMIM 157170 CLINVAR
  269160 CLINVAR
  603714 CLINVAR
OMIM Allele 603714.0008 CLINVAR
SNOMED CT 253159001 CLINVAR