RGD:156034673 Rat Genome Database

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Variant: RGD:156034673 -  Homo sapiens

RGD ID: 156034673
ClinVar ID: CV2376698
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CACNG8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 54,485,406
GRCh38 19 53,982,152
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_031895.6:c.581A>G
NM_031895.5:c.581A>G
NP_114101.4:p.Glu194Gly
NC_000019.10:g.53982152A>G
More... 		12/02/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CACNG8
Accession:NM_031895
Location:EXON
Amino Acid Prediction: E to G (nonsynonymous)
Amino Acid Position: 194
Amino Acid Sequence
(Calculated using NCBI transcript definition)
LESLKRWNEERGLWCEKGVQVLLTTVGAFAAFGLMTIAISTDYWLYTRALICNTTNLTAGGDDGTPHRGGGGASEKKDPG
GLTHSGLWRICCLEGLKRGVCVKINHFPEDTDYDHDSAEYLLRVVRASSIFPILSAILLLLGGVCVAASRVYKSKRNIIL
GAGILFVAAGLSNIIGVIVYISANAGEPGPKRDGEKKNHYSYGWSFYFGGLSFILAEVIGVLAVNIYIERSREAHCQSRS
DLLKAGGGAGGSGGSGPSAILRLPSYRFRYRRRSRSSSRSSEPSPSRDASPGGPGGPGFASTDISMYTLSRDPSKGSVAA
GLAGAGGGGGGAVGAFGGAAGGAGGGGGGGGGAGAERDRGGASGFLTLHNAFPKEAGGGVTVTVTGPPAPPAPAPPAPSA
PAPGTLAKEAAASNTNTLNRKTTPV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002703915 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene CACNG8 CLINVAR
OMIM 606900 CLINVAR