RGD:11351120 Rat Genome Database

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Variant: RGD:11351120 -  Homo sapiens

RGD ID: 11351120
RS ID: rs878853284
ClinVar ID: CV237813
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB2B  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 6 3,225,607
GRCh38 6 3,225,373
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_016715.1:g.7362G>T
NC_000006.12:g.3225373C>A
NC_000006.11:g.3225607C>A
NP_821080.1:p.Cys239Phe
More... 		06/21/2016 missense variant pathogenic infancy|neonatal <1 / 1 000 000 Polymicrogyria, asymmetric
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TUBB2B
Accession:NM_178012
Location:EXON
Amino Acid Prediction: C to F (nonsynonymous)
Amino Acid Position: 239
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYVPRAILVDLEPGTMDSVRSGP
FGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYP
DRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTFL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMMAACDPRHGRYLTVAAIFRGR
MSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSEYQQYQDATADEQGEFEEEEGEDEA*
Variant Samples
Additional References at PubMed
PMID:25059107   PMID:26732629  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000225257 CLINVAR
dbSNP (RS) rs878853284 CLINVAR
MedGen C3552236 CLINVAR
NCBI Gene TUBB2B CLINVAR
OMIM 610031 CLINVAR
  612850 CLINVAR
OMIM Allele 612850.0008 CLINVAR