RGD:151799468 Rat Genome Database

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Variant: RGD:151799468 -  Homo sapiens

RGD ID: 151799468
RS ID: rs149073638
ClinVar ID: CV1426296
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127820035  TALDO1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 747,542
GRCh38 11 747,542
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_006755.2:c.61T>C
NG_008160.1:g.5111T>C
NC_000011.10:g.747542T>C
NC_000011.9:g.747542T>C
More... 		10/14/2021 missense variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:TALDO1
Accession:NM_006755
Location:EXON
Amino Acid Prediction: F to L (nonsynonymous)
Amino Acid Position: 21
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSPVKRQRMESALDQLKQLTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQELVEEAIAYGRKLGGSQEDQI
KNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQH
GIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRN
TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAV
KLERMLTERMFNAENGK*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001990817 CLINVAR
dbSNP (RS) rs149073638 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene TALDO1 CLINVAR
OMIM 602063 CLINVAR