RGD:401929085 Rat Genome Database

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Variant: RGD:401929085 -  Homo sapiens

RGD ID: 401929085
ClinVar ID: CV2813553
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GVQW3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 76,093,466
GRCh38 11 76,382,422
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282456.4:c.382+212T>C
NM_001347884.2:c.465+129T>C
NM_001347885.2:c.465+129T>C
NM_001305225.4:c.594T>C
More... 		06/01/2022 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:GVQW3
Accession:NM_001305225
Location:EXON
Amino Acid Prediction: L to L (synonymous)
Amino Acid Position: 198
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSDRYLEQRISIKFCVKLNKSASETHHLLKEAYGDEVMSRARVFDWHKRFKEGREDVRDDARSGRPVTHRTDDNIQKVKD
LVCSNRQLTVRMMAEELNLDKETVRLILKENLNMRKISAKVISGVLKGEPKPRKLDFRSDLSKETRKNSSCLRKKVTGSE
TWSYLQGEAGGEMPLPVSHPRVHYSASQLLQASSSTSLPPRVAENWFTPW*

Gene Symbol:GVQW3
Accession:NM_001282456
Location:INTRON

Gene Symbol:GVQW3
Accession:XM_024448281
Location:INTRON

Gene Symbol:GVQW3
Accession:XM_024448282
Location:INTRON

Gene Symbol:GVQW3
Accession:NM_001347884
Location:INTRON

Gene Symbol:GVQW3
Accession:NM_001347885
Location:INTRON

Gene Symbol:GVQW3
Accession:NR_130990
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003390092 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene GVQW3 CLINVAR