RGD:597683102 Rat Genome Database

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Variant: RGD:597683102 -  Homo sapiens

RGD ID: 597683102
ClinVar ID: CV3625994
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBOX5  UBOX5-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 3,102,750
GRCh38 20 3,122,104
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001267584.2:c.535C>G
NM_014948.4:c.535C>G
NM_199415.3:c.535C>G
NC_000020.11:g.3122104G>C
More...
10/07/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004883806 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UBOX5 CLINVAR
  UBOX5-AS1 CLINVAR
OMIM 619675 CLINVAR