RGD:597683122 Rat Genome Database

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Variant: RGD:597683122 -  Homo sapiens

RGD ID: 597683122
ClinVar ID: CV3625996
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UBOX5  UBOX5-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 20 3,102,842
GRCh38 20 3,122,196
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000020.10:g.3102842G>A
NM_014948.2:c.443C>T
NP_001254513.1:p.Thr148Ile
NP_055763.1:p.Thr148Ile
More... 		09/03/2024 missense variant uncertain significance AllHighlyPenetrant

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Database
Acc Id
Source(s)
ClinVar RCV004883808 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UBOX5 CLINVAR
  UBOX5-AS1 CLINVAR
OMIM 619675 CLINVAR