RGD:11624235 Rat Genome Database

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Variant: RGD:11624235 -  Homo sapiens

RGD ID: 11624235
RS ID: rs149640294
ClinVar ID: CV328136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TALDO1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 755,962
GRCh38 11 755,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008160.1:g.13531C>G
NC_000011.10:g.755962C>G
NC_000011.9:g.755962C>G
NP_006746.1:p.Leu61Val
More... 		03/15/2022 missense variant likely benign|uncertain significance infancy <1 / 1 000 000 EYAID SYNDROME; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TALDO1
Accession:NM_006755
Location:EXON
Amino Acid Prediction: L to V (nonsynonymous)
Amino Acid Position: 61
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSSPVKRQRMESALDQLKQFTTVVADTGDFHAIDEYKPQDATTNPSLILAAAQMPAYQEVVEEAIAYGRKLGGSQEDQI
KNAIDKLFVLFGAEILKKIPGRVSTEVDARLSFDKDAMVARARRLIELYKEAGISKDRILIKLSSTWEGIQAGKELEEQH
GIHCNMTLLFSFAQAVACAEAGVTLISPFVGRILDWHVANTDKKSYEPLEDPGVKSVTKIYNYYKKFSYKTIVMGASFRN
TGEIKALAGCDFLTISPKLLGELLQDNAKLVPVLSAKAAQASDLEKIHLDEKSFRWLHNEDQMAVEKLSDGIRKFAADAV
KLERMLTERMFNAENGK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000383278 CLINVAR
  RCV000994535 CLINVAR
  RCV003910128 CLINVAR
dbSNP (RS) rs149640294 CLINVAR
MedGen C1291329 CLINVAR
  C3661900 CLINVAR
NCBI Gene TALDO1 CLINVAR
OMIM 602063 CLINVAR
  606003 CLINVAR
SNOMED CT 124252008 CLINVAR