RGD:8691589 Rat Genome Database

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Variant: RGD:8691589 -  Homo sapiens

RGD ID: 8691589
RS ID: rs2234338
ClinVar ID: CV141556
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: TUBA8  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 18,613,603
GRCh38 22 18,130,836
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_023429.1:g.25151C>T
NC_000022.11:g.18130836C>T
NC_000022.10:g.18613603C>T
NM_018943.2:c.1057-7C>T
More... 		12/18/2021 intron variant benign|likely benign|conflicting interpretations of pathogenicity AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:TUBA8
Accession:NM_018943
Location:INTRON

Gene Symbol:TUBA8
Accession:NM_001193414
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:26467025   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000147824 CLINVAR
  RCV000714140 CLINVAR
  RCV003965048 CLINVAR
dbSNP (RS) rs2234338 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene TUBA8 CLINVAR
OMIM 605742 CLINVAR