RGD:12847560 Rat Genome Database

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Variant: RGD:12847560 -  Homo sapiens

RGD ID: 12847560
RS ID: rs147928399
ClinVar ID: CV375851
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBB3  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 16 89,999,871
GRCh38 16 89,933,463
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.16455C>G
NC_000016.10:g.89933463C>G
NC_000016.9:g.89999871C>G
NM_001197181.2:c.-50-5C>G
More... 		03/05/2019 intron variant benign|likely benign AllHighlyPenetrant; none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:TUBB3
Accession:NM_006086
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000443702 CLINVAR
  RCV000887231 CLINVAR
  RCV003912778 CLINVAR
dbSNP (RS) rs147928399 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TUBB3 CLINVAR
OMIM 602661 CLINVAR