RGD:28893013 Rat Genome Database

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Variant: RGD:28893013 -  Homo sapiens

RGD ID: 28893013
RS ID: rs1959831823
ClinVar ID: CV875700
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB1  LOC127884139  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 57,917,998
GRCh38 16 57,884,094
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001297.4:c.*70C>G
NM_001286130.2:c.*70C>G
NM_001297.5:c.*70C>G
NG_016351.1:g.92023C>G
More... 		01/12/2018 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 RCV001121541 CLINVAR
dbSNP (RS) rs1959831823 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CNGB1 CLINVAR
OMIM 268000 CLINVAR
  600724 CLINVAR
SNOMED CT 28835009 CLINVAR