RGD:28887136 Rat Genome Database

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Variant: RGD:28887136 -  Homo sapiens

RGD ID: 28887136
RS ID: rs77128930
ClinVar ID: CV875697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB1  LOC127884139  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 57,917,747
GRCh38 16 57,883,843
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000016.9:g.57917747C>G
NM_001297.4:c.*321G>C
NM_001286130.2:c.*321G>C
NM_001297.5:c.*321G>C
More... 		01/13/2018 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:CNGB1
Accession:NM_001297
Location:3UTRS;EXON

Gene Symbol:CNGB1
Accession:NM_001286130
Location:3UTRS;EXON

Gene Symbol:CNGB1
Accession:NM_001135639
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001119540 CLINVAR
dbSNP (RS) rs77128930 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CNGB1 CLINVAR
OMIM 268000 CLINVAR
  600724 CLINVAR
SNOMED CT 28835009 CLINVAR