RGD:13612815 Rat Genome Database

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Variant: RGD:13612815 -  Homo sapiens

RGD ID: 13612815
RS ID: rs1555625363
ClinVar ID: CV432220
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 89,999,057
GRCh38 16 89,932,649
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001197181.2:c.-81C>T
NM_006086.4:c.136C>T
NM_006086.3:c.136C>T
NG_027810.1:g.15641C>T
More...
11/01/2023 5 prime utr variant|missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity FEOM3 LOCUS; none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBB3
Accession:NM_001197181
Location:5UTRS;EXON

Gene Symbol:TUBB3
Accession:NM_006086
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 46
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPSGNYVGDSDLQLEWISVYYNEASSHKYVPRAILVDLEPGTMDSVRSGA
FGHLFRPDNFIFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKECENCDCLQGFQLTHSLGGGTGSGMGTLLISKVREEYP
DRIMNTFSVVPSPKVSDTVVEPYNATLSIHQLVENTDETYCIDNEALYDICFRTLKLATPTYGDLNHLVSATMSGVTTSL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTARGSQQYRALTVPELTQQMFDAKNMMAACDPRHGRYLTVATVFRGR
MSMKEVDEQMLAIQSKNSSYFVEWIPNNVKVAVCDIPPRGLKMSSTFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATAEEEGEMYEDDEEESEAQGPK*

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532   PMID:29269699   PMID:29706646  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000656083 CLINVAR
  RCV001824143 CLINVAR
  RCV002461261 CLINVAR
  RCV003126774 CLINVAR
dbSNP (RS) rs1555625363 CLINVAR
MedGen C0008073 CLINVAR
  C2748801 CLINVAR
  C3661900 CLINVAR
  C3808397 CLINVAR
NCBI Gene TUBB3 CLINVAR
OMIM 600638 CLINVAR
  602661 CLINVAR
  614039 CLINVAR
SNOMED CT 5294002 CLINVAR