RGD:11579381 Rat Genome Database

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Variant: RGD:11579381 -  Homo sapiens

RGD ID: 11579381
RS ID: rs776740276
ClinVar ID: CV271201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPG2  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 3 100,988,418
GRCh38 3 101,269,574
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_016247.4:c.829-1G>T
NG_028284.1:g.56002G>T
NC_000003.12:g.101269574C>A
NC_000003.11:g.100988418C>A
More...
12/30/2019 splice acceptor variant pathogenic|likely pathogenic adolescent 1-5 / 10 000 none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:IMPG2
Accession:NM_016247
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:20673862   PMID:25472526   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000302348 CLINVAR
  RCV001074907 CLINVAR
dbSNP (RS) rs776740276 CLINVAR
MedGen C0854723 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene IMPG2 CLINVAR
OMIM 607056 CLINVAR
SNOMED CT 314407005 CLINVAR