RGD:10041429 Rat Genome Database

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Variant: RGD:10041429 -  Homo sapiens

RGD ID: 10041429
RS ID: rs786204498
ClinVar ID: CV186771
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 87,755,744
GRCh38 8 86,743,516
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
NM_019098.5:c.112C>T
NG_016980.1:g.5160C>T
NC_000008.11:g.86743516G>A
NC_000008.10:g.87755744G>A
More... 		08/26/2020 nonsense pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy 1-9 / 100 000 ACHM1 (formerly); Achromatopsia with myopia; none provided; Pingelapese blindness; RMCH1 (formerly); ROD MONOCHROMACY 1; Rod monochromacy 1 (formerly); Rod monochromatism; ROD MONOCHROMATISM 1; Rod monochromatism 1 (formerly); Total colorblindness with myopia
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Achromatopsia  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:NM_019098
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 38
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQS*QTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSG
DLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLYLLWLLLVTLAYNWNCCFIPLRL
VFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFN
PMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYW
AVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVR
TWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKE
MYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMK
KARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQ
KENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLT
IEVKEKAKQ*

Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15657609   PMID:16319819   PMID:25741868   PMID:28492532   PMID:28795510   PMID:30418171  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000169174 CLINVAR
  RCV000596854 CLINVAR
  RCV001380986 CLINVAR
dbSNP (RS) rs786204498 CLINVAR
MedGen C0152200 CLINVAR
  C1849792 CLINVAR
  C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 262300 CLINVAR
  605080 CLINVAR
SNOMED CT 56852002 CLINVAR