RGD:10766798 Rat Genome Database

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Variant: RGD:10766798 -  Homo sapiens

RGD ID: 10766798
RS ID: rs864321717
ClinVar ID: CV217281
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 90,001,997
GRCh38 16 89,935,589
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027810.1:g.18581C>T
NC_000016.10:g.89935589C>T
NC_000016.9:g.90001997C>T
NP_001184110.1:p.Arg308Cys
More... 		06/11/2020 missense variant pathogenic FEOM3 LOCUS; none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBB3
Accession:NM_001197181
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 308
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSVRSGAFGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLI
SKVREEYPDRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSAT
MSGVTTSLRFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLT
VATVFRGRMSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKCISEQFTAMFRRK
AFLHWYTGEGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK*

Gene Symbol:TUBB3
Accession:NM_006086
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLERISVYYNEASSHKYVPRAILVDLEPGTMDSVRSGA
FGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYP
DRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGR
MSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKCISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK*
Variant Samples
Additional References at PubMed
PMID:20074521   PMID:20301522   PMID:25131622   PMID:25741868   PMID:28492532   PMID:28677066  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000203611 CLINVAR
  RCV000255747 CLINVAR
  RCV001267589 CLINVAR
  RCV001804943 CLINVAR
dbSNP (RS) rs864321717 CLINVAR
MedGen C0950123 CLINVAR
  C2748801 CLINVAR
  C3661900 CLINVAR
  C3808397 CLINVAR
NCBI Gene TUBB3 CLINVAR
OMIM 600638 CLINVAR
  602661 CLINVAR
  614039 CLINVAR