RGD:8573685 Rat Genome Database

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Variant: RGD:8573685 -  Homo sapiens

RGD ID: 8573685
RS ID: rs398122369
ClinVar ID: CV94456
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB2B  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 3,225,062
GRCh38 6 3,224,828
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.7907G>A
NC_000006.12:g.3224828C>T
NC_000006.11:g.3225062C>T
NM_178012.5:c.1261G>A
More... 		01/14/2016 missense|missense variant pathogenic|likely pathogenic neonatal/infancy <1 / 1 000 000 Lissencephaly spectrum disorders; Polymicrogyria, asymmetric
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Lissencephaly  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:TUBB2B
Accession:NM_178012
Location:EXON
Amino Acid Prediction: E to K (nonsynonymous)
Amino Acid Position: 421
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MREIVHIQAGQCGNQIGAKFWEVISDEHGIDPTGSYHGDSDLQLERINVYYNEATGNKYVPRAILVDLEPGTMDSVRSGP
FGQIFRPDNFVFGQSGAGNNWAKGHYTEGAELVDSVLDVVRKESESCDCLQGFQLTHSLGGGTGSGMGTLLISKIREEYP
DRIMNTFSVMPSPKVSDTVVEPYNATLSVHQLVENTDETYCIDNEALYDICFRTLKLTTPTYGDLNHLVSATMSGVTTCL
RFPGQLNADLRKLAVNMVPFPRLHFFMPGFAPLTSRGSQQYRALTVPELTQQMFDSKNMMAACDPRHGRYLTVAAIFRGR
MSMKEVDEQMLNVQNKNSSYFVEWIPNNVKTAVCDIPPRGLKMSATFIGNSTAIQELFKRISEQFTAMFRRKAFLHWYTG
EGMDEMEFTEAESNMNDLVSKYQQYQDATADEQGEFEEEEGEDEA*
Variant Samples
Additional References at PubMed
PMID:11425694   PMID:23001566   PMID:29671837  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000074466 CLINVAR
  RCV001291304 CLINVAR
dbSNP (RS) rs398122369 CLINVAR
MedGen C0266463 CLINVAR
  C3552236 CLINVAR
NCBI Gene TUBB2B CLINVAR
OMIM 610031 CLINVAR
  612850 CLINVAR
OMIM Allele 612850.0007 CLINVAR
SNOMED CT 204036008 CLINVAR