RGD:405220525 Rat Genome Database

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Variant: RGD:405220525 -  Homo sapiens

RGD ID: 405220525
ClinVar ID: CV3154424
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SPTB  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 65,239,485
GRCh38 14 64,772,767
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_1130t1:c.5366G>A
LRG_1130t2:c.5366G>A
NM_001024858.4:c.5366G>A
NM_001355436.2:c.5366G>A
More... 		05/09/2023 missense variant uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003847116 CLINVAR
  RCV004366959 CLINVAR
MedGen C0950123 CLINVAR
  C3661900 CLINVAR
NCBI Gene SPTB CLINVAR
OMIM 182870 CLINVAR