RGD:11595568 Rat Genome Database

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Variant: RGD:11595568 -  Homo sapiens

RGD ID: 11595568
RS ID: rs531023160
ClinVar ID: CV288578
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: IMPG2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 100,943,571
GRCh38 3 101,224,727
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_028284.1:g.100849G>A
NC_000003.12:g.101224727C>T
NC_000003.11:g.100943571C>T
NM_016247.4:c.*2242G>A
More... 		06/14/2016 3 prime utr variant uncertain significance Tapetoretinal degeneration
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:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000371657 CLINVAR
dbSNP (RS) rs531023160 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene IMPG2 CLINVAR
OMIM 268000 CLINVAR
  607056 CLINVAR
SNOMED CT 28835009 CLINVAR