RGD:8561741 Rat Genome Database

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Variant: RGD:8561741 -  Homo sapiens

RGD ID: 8561741
RS ID: rs724159983
ClinVar ID: CV25549
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 153,448,055
GRCh38 X 154,182,566
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011606.1:g.4971A>C
NC_000023.11:g.154182566A>C
NC_000023.10:g.153448055A>C
 01/14/2015 2kb upstream variant pathogenic Colorblindness, partial, deutan series; DEUTAN COLORBLINDNESS; Deutan defect; GREEN COLORBLINDNESS
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Deuteranomaly  (IAGP)

Variant Details
Variant Samples
Additional References at PubMed
PMID:12626747  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000011256 CLINVAR
dbSNP (RS) rs724159983 CLINVAR
MedGen C3887938 CLINVAR
NCBI Gene OPN1MW CLINVAR
OMIM 300821 CLINVAR
  303800 CLINVAR
OMIM Allele 300821.0005 CLINVAR
SNOMED CT 77479002 CLINVAR