RGD:11601215 Rat Genome Database

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Variant: RGD:11601215 -  Homo sapiens

RGD ID: 11601215
RS ID: rs17683284
ClinVar ID: CV315408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 87,586,729
GRCh38 8 86,574,501
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016980.1:g.174175G>A
NC_000008.11:g.86574501C>T
NC_000008.10:g.87586729C>T
NM_019098.5:c.*1303G>A
More...
01/12/2018 3 prime utr variant benign|likely benign ACHM1 (formerly); Achromatopsia with myopia; Juvenile onset macular degeneration; MACULAR DYSTROPHY WITH FLECKS, TYPE 1; Pingelapese blindness; RMCH1 (formerly); ROD MONOCHROMACY 1; Rod monochromacy 1 (formerly); ROD MONOCHROMATISM 1; Rod monochromatism 1 (formerly); Stargardt disease 1; Stargardt macular dystrophy; STGD; Total colorblindness with myopia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:NM_019098
Location:3UTRS;EXON

Gene Symbol:CNGB3
Accession:XM_011517138
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280351 CLINVAR
  RCV000379480 CLINVAR
dbSNP (RS) rs17683284 CLINVAR
MedGen C1849792 CLINVAR
  C1855465 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 248200 CLINVAR
  262300 CLINVAR
  605080 CLINVAR