RGD:13211180 Rat Genome Database

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Variant: RGD:13211180 -  Homo sapiens

RGD ID: 13211180
RS ID: rs1554618404
ClinVar ID: CV417139
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 87,738,796
GRCh38 8 86,726,568
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.22108C>T
NC_000008.11:g.86726568G>A
NC_000008.10:g.87738796G>A
NP_061971.3:p.Gln101Ter
More... 		03/27/2017 nonsense 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:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 101
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSG
DLTTNPDPQNAAEPTGTVPE*KEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTDRLYLLWLLLVTLAYNWNCCFIPLRL
VFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFN
PMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYW
AVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVR
TWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKE
MYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMK
KARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQ
KENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLT
IEVKEKAKQ*

Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28795510  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000498036 CLINVAR
dbSNP (RS) rs1554618404 CLINVAR
MedGen C1849792 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 262300 CLINVAR
  605080 CLINVAR