RGD:11619838 Rat Genome Database

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Variant: RGD:11619838 -  Homo sapiens

RGD ID: 11619838
RS ID: rs139212660
ClinVar ID: CV335610
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 57,916,639
GRCh38 16 57,882,735
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016351.1:g.93382T>C
NC_000016.10:g.57882735A>G
NC_000016.9:g.57916639A>G
NM_001286130.2:c.*1429T>C
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:CNGB1
Accession:NM_001286130
Location:3UTRS;EXON

Gene Symbol:CNGB1
Accession:NM_001297
Location:3UTRS;EXON

Gene Symbol:CNGB1
Accession:NM_001135639
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000330164 CLINVAR
dbSNP (RS) rs139212660 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CNGB1 CLINVAR
OMIM 268000 CLINVAR
  600724 CLINVAR
SNOMED CT 28835009 CLINVAR