RGD:11607902 Rat Genome Database

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Variant: RGD:11607902 -  Homo sapiens

RGD ID: 11607902
RS ID: rs141717983
ClinVar ID: CV315321
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 87,587,739
GRCh38 8 86,575,511
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019098.4:c.*293T>C
NG_016980.1:g.173165T>C
NC_000008.11:g.86575511A>G
NC_000008.10:g.87587739A>G
More... 		01/13/2018 3 prime utr variant uncertain significance 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 RCV000348561 CLINVAR
  RCV000389094 CLINVAR
dbSNP (RS) rs141717983 CLINVAR
MedGen C1849792 CLINVAR
  C1855465 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 248200 CLINVAR
  262300 CLINVAR
  605080 CLINVAR