RGD:28908938 Rat Genome Database

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Variant: RGD:28908938 -  Homo sapiens

RGD ID: 28908938
RS ID: rs543553728
ClinVar ID: CV879517
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAX  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 18 56,934,315
GRCh38 18 59,267,083
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013435.3:c.*1921C>T
NG_013031.1:g.11311C>T
NC_000018.10:g.59267083G>A
NC_000018.9:g.56934315G>A
More... 		01/13/2018 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 RCV001128445 CLINVAR
dbSNP (RS) rs543553728 CLINVAR
MedGen C5774181 CLINVAR
NCBI Gene RAX CLINVAR
OMIM 601881 CLINVAR
  611038 CLINVAR