RGD:405248865 Rat Genome Database

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Variant: RGD:405248865 -  Homo sapiens

RGD ID: 405248865
ClinVar ID: CV3003840
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC80  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 210,858,923
GRCh38 2 209,994,199
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182587.4:c.9373G>T
NM_032504.2:c.9445G>T
NM_001371986.1:c.9643G>T
NG_051361.1:g.227275G>T
More... 		07/16/2023 nonsense pathogenic none provided

Variant Details
Variant Samples
Additional References at PubMed
PMID:26545877   PMID:26708751   PMID:26708753   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003721217 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UNC80 CLINVAR
OMIM 612636 CLINVAR