RGD:401871658 Rat Genome Database

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Variant: RGD:401871658 -  Homo sapiens

RGD ID: 401871658
ClinVar ID: CV2783566
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CTU1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 19 51,601,964
GRCh38 19 51,098,707
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000019.9:g.51601964C>T
NM_145232.3:c.941G>A
NM_145232.4:c.941G>A
NC_000019.10:g.51098707C>T
More... 		09/12/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CTU1
Accession:NM_145232
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAPPCASCHAARAALRRPLSGQALCGACFCAAFEAEVLHTVLAGRLLPPGAVVAVGASGGKDSTVLAHVLRALAPRLGI
SLQLVAVDEGIGGYRDAALAAVRRQAARWELPLTVVAYEDLFGGWTMDAVARSTAGSGRSRSCCTFCGVLRRRALEEGAR
RVGATHIVTGHNADDMAETVLMNFLRGDAGRLARGGGLGSPGEGGALPRCRPLQFASQKEVVLYAHFRRLDYFSEECVYA
PEAFRGHARDLLKRLEAARPSAVLDLVHSAERLALAPAARPPRPGACSRCGALASRALCQACALLDGLNRGRPHLAIGKG
RRGLDEEATPGTPGDPARPPASKAVPTF*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004365894 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CTU1 CLINVAR
OMIM 612694 CLINVAR