RGD:14399813 Rat Genome Database

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Variant: RGD:14399813 -  Homo sapiens

RGD ID: 14399813
RS ID: rs1565627805
ClinVar ID: CV613825
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBA1A  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 12 49,580,616
GRCh38 12 49,186,833
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000012.12:g.49186833G>T
NP_006000.2:p.Arg2Ser
NC_000012.11:g.49580616G>T
NM_006009.3:c.4C>A
More... 		07/01/2018 5 prime utr variant pathogenic Tubulinopathies
Disease Annotations     Click to see Annotation Detail View
tubulinopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:TUBA1A
Accession:NM_001270400
Location:5UTRS;INTRON

Gene Symbol:TUBA1A
Accession:NM_006009
Location:INTRON

Gene Symbol:TUBA1A
Accession:NM_001270399
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:30744660  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000767427 CLINVAR
dbSNP (RS) rs1565627805 CLINVAR
MedGen CN850169 CLINVAR
NCBI Gene TUBA1A CLINVAR
OMIM 602529 CLINVAR