RGD:28899123 Rat Genome Database

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Variant: RGD:28899123 -  Homo sapiens

RGD ID: 28899123
RS ID: rs552418179
ClinVar ID: CV879524
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RAX  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 18 56,934,818
GRCh38 18 59,267,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000018.10:g.59267586C>T
NC_000018.9:g.56934818C>T
NM_013435.2:c.*1418G>A
NM_013435.3:c.*1418G>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 RCV001123833 CLINVAR
dbSNP (RS) rs552418179 CLINVAR
MedGen C5774181 CLINVAR
NCBI Gene RAX CLINVAR
OMIM 601881 CLINVAR
  611038 CLINVAR