RGD:596924648 Rat Genome Database

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Variant: RGD:596924648 -  Homo sapiens

RGD ID: 596924648
ClinVar ID: CV3536231
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NKIRAS1  RPL15  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 23,960,930
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001253379.2:c.553G>A
NM_001253380.2:c.553G>A
NM_001253382.2:c.553G>A
NM_001253383.3:c.553G>A
More...
10/11/2024 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:29599205  


Additional Information

Database Acc Id Source(s)
ClinVar RCV004788661 CLINVAR
MedGen C3809888 CLINVAR
NCBI Gene NKIRAS1 CLINVAR
  RPL15 CLINVAR
OMIM 604174 CLINVAR
  604496 CLINVAR
  615550 CLINVAR