RGD:401937385 Rat Genome Database

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Variant: RGD:401937385 -  Homo sapiens

RGD ID: 401937385
ClinVar ID: CV2818692
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTU1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,607,776
GRCh38 19 51,104,519
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_145232.4:c.51C>A
NC_000019.10:g.51104519G>T
NC_000019.9:g.51607776G>T
NP_660275.2:p.Arg17=
 04/01/2022 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:CTU1
Accession:NM_145232
Location:EXON
Amino Acid Prediction: R to R (synonymous)
Amino Acid Position: 17
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAPPCASCHAARAALRRPLSGQALCGACFCAAFEAEVLHTVLAGRLLPPGAVVAVGASGGKDSTVLAHVLRALAPRLGI
SLQLVAVDEGIGGYRDAALAAVRRQAARWELPLTVVAYEDLFGGWTMDAVARSTAGSGRSRSCCTFCGVLRRRALEEGAR
RVGATHIVTGHNADDMAETVLMNFLRGDAGRLARGGGLGSPGEGGALPRCRPLQFASQKEVVLYAHFRRLDYFSEECVYA
PEAFRGHARDLLKRLEAARPSAVLDLVHSAERLALAPAARPPRPGACSRCGALASRALCQACALLDGLNRGRPRLAIGKG
RRGLDEEATPGTPGDPARPPASKAVPTF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV003415395 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CTU1 CLINVAR
OMIM 612694 CLINVAR