RGD:10041435 Rat Genome Database

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Variant: RGD:10041435 -  Homo sapiens

RGD ID: 10041435
RS ID: rs768345097
ClinVar ID: CV186768
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 87,679,359
GRCh38 8 86,667,131
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.81545C>T
NC_000008.11:g.86667131G>A
NC_000008.10:g.87679359G>A
NP_061971.3:p.Arg216Ter
More...
04/14/2020 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: R to * (nonsynonymous)
Amino Acid Position: 216
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFKSLTKVNKVKPIGENNENEQSSRRNEEGSHPSNQSQQTTAQEENKGEEKSLKTKSTPVTSEEPHTNIQDKLSKKNSSG
DLTTNPDPQNAAEPTGTVPEQKEMDPGKEGPNSPQNKPPAAPVINEYADAQLHNLVKRMRQRTALYKKKLVEGDLSSPEA
SPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTD*LYLLWLLLVTLAYNWNCCFIPLRL
VFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTSTKFQLDVASIIPFDICYLFFGFN
PMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYEGIGTTRWVYDGEGNEYLRCYYW
AVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRACMDDTIAYMNNYSIPKLVQKRVR
TWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLLRLKSVLYLPGDFVCKKGEIGKE
MYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLTLDKKTLQEILVHYPDSERILMK
KARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQAAQKKENSEGGEEEGKENEDKQ
KENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRGTSRQSLIISMAPSAEGGEEVLT
IEVKEKAKQ*

Gene Symbol:CNGB3
Accession:XM_011517138
Location:EXON
Amino Acid Prediction: R to * (nonsynonymous)
Amino Acid Position: 78
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRQRTALYKKKLVEGDLSSPEASPQTAKPTAVPPVKESDDKPTEHYYRLLWFKVKKMPLTEYLKRIKLPNSIDSYTD*LY
LLWLLLVTLAYNWNCCFIPLRLVFPYQTADNIHYWLIADIICDIIYLYDMLFIQPRLQFVRGGDIIVDSNELRKHYRTST
KFQLDVASIIPFDICYLFFGFNPMFRANRMLKYTSFFEFNHHLESIMDKAYIYRVIRTTGYLLFILHINACVYYWASNYE
GIGTTRWVYDGEGNEYLRCYYWAVRTLITIGGLPEPQTLFEIVFQLLNFFSGVFVFSSLIGQMRDVIGAATANQNYFRAC
MDDTIAYMNNYSIPKLVQKRVRTWYEYTWDSQRMLDESDLLKTLPTTVQLALAIDVNFSIISKVDLFKGCDTQMIYDMLL
RLKSVLYLPGDFVCKKGEIGKEMYIIKHGEVQVLGGPDGTKVLVTLKAGSVFGEISLLAAGGGNRRTANVVAHGFANLLT
LDKKTLQEILVHYPDSERILMKKARVLLKQKAKTAEATPPRKDLALLFPPKEETPKLFKTLLGGTGKASLARLLKLKREQ
AAQKKENSEGGEEEGKENEDKQKENEDKQKENEDKGKENEDKDKGREPEEKPLDRPECTASPIAVEEEPHSVRRTVLPRG
TSRQSLIISMAPSAEGGEEVLTIEVKEKAKQ*

Variant Samples
Additional References at PubMed
PMID:15657609   PMID:28492532   PMID:28795510  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000169194 CLINVAR
  RCV001380985 CLINVAR
  RCV001831988 CLINVAR
dbSNP (RS) rs768345097 CLINVAR
MedGen C0152200 CLINVAR
  C1849792 CLINVAR
  C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 262300 CLINVAR
  605080 CLINVAR
SNOMED CT 56852002 CLINVAR