RGD:12739986 Rat Genome Database

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Variant: RGD:12739986 -  Homo sapiens

RGD ID: 12739986
RS ID: rs1057517388
ClinVar ID: CV357641
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 87,591,093
GRCh38 8 86,578,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_016980.1:g.169811A>G
NC_000008.11:g.86578865T>C
NC_000008.10:g.87591093T>C
NM_019098.5:c.1929-2A>G
More... 		10/25/2016 splice acceptor variant likely pathogenic infancy 1-9 / 100 000 ACHM1 (formerly); Achromatopsia with myopia; Pingelapese blindness; RMCH1 (formerly); ROD MONOCHROMACY 1; Rod monochromacy 1 (formerly); ROD MONOCHROMATISM 1; Rod monochromatism 1 (formerly); Total colorblindness with myopia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:NM_019098
Location:INTRON

Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000410908 CLINVAR
dbSNP (RS) rs1057517388 CLINVAR
MedGen C1849792 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 262300 CLINVAR
  605080 CLINVAR