RGD:26889057 Rat Genome Database

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Variant: RGD:26889057 -  Homo sapiens

RGD ID: 26889057
RS ID: rs1410218983
ClinVar ID: CV835088
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 87,751,926
GRCh38 8 86,739,698
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.168G>C
NP_061971.3:p.Lys56Asn
NC_000008.11:g.86739698C>G
NC_000008.10:g.87751926C>G
More...
10/01/2020 missense variant uncertain significance ACHM1 (formerly); Achromatopsia with myopia; Juvenile onset macular degeneration; MACULAR DYSTROPHY WITH FLECKS, TYPE 1; none provided; 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:EXON
Amino Acid Prediction: K to N (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTNSTPVTSEEPHTNIQDKLSKKNSSG
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001057922 CLINVAR
  RCV001162610 CLINVAR
  RCV001162611 CLINVAR
dbSNP (RS) rs1410218983 CLINVAR
MedGen C1849792 CLINVAR
  C1855465 CLINVAR
  C3661900 CLINVAR
  CN517202 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 248200 CLINVAR
  262300 CLINVAR
  605080 CLINVAR