RGD:405185778 Rat Genome Database

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Variant: RGD:405185778 -  Homo sapiens

RGD ID: 405185778
ClinVar ID: CV2907698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TAPBPL  VAMP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 12 6,574,105
GRCh38 12 6,464,939
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297438.2:c.291G>C
NM_014231.5:c.291G>C
NM_016830.4:c.291G>C
NM_199245.3:c.291G>C
More... 		03/22/2023 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View
paraplegia  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003589351 CLINVAR
MedGen C0037772 CLINVAR
NCBI Gene TAPBPL CLINVAR
  VAMP1 CLINVAR
OMIM 185880 CLINVAR
  607081 CLINVAR