RGD:28909030 Rat Genome Database

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Variant: RGD:28909030 -  Homo sapiens

RGD ID: 28909030
RS ID: rs982329960
ClinVar ID: CV900097
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 87,586,327
GRCh38 8 86,574,099
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.174577A>C
NC_000008.11:g.86574099T>G
NC_000008.10:g.87586327T>G
NM_019098.4:c.*1705A>C
 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 Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160382 CLINVAR
  RCV001160383 CLINVAR
dbSNP (RS) rs982329960 CLINVAR
MedGen C1849792 CLINVAR
  C1855465 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 248200 CLINVAR
  262300 CLINVAR
  605080 CLINVAR