RGD:11627445 Rat Genome Database

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Variant: RGD:11627445 -  Homo sapiens

RGD ID: 11627445
RS ID: rs769710821
ClinVar ID: CV348920
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAX  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 18 56,934,419
GRCh38 18 59,267,187
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_013031.1:g.11207A>G
NC_000018.10:g.59267187T>C
NC_000018.9:g.56934419T>C
NM_013435.3:c.*1817A>G
More... 		06/14/2016 3 prime utr variant uncertain significance MICROPHTHALMIA, SYNDROMIC 16
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RAX
Accession:NM_013435
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000282218 CLINVAR
dbSNP (RS) rs769710821 CLINVAR
MedGen C5774181 CLINVAR
NCBI Gene RAX CLINVAR
OMIM 601881 CLINVAR
  611038 CLINVAR