RGD:152025852 Rat Genome Database

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Variant: RGD:152025852 -  Homo sapiens

RGD ID: 152025852
RS ID: rs752162072
ClinVar ID: CV1528112
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC80  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 210,847,050
GRCh38 2 209,982,326
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.9044+9C>T
NM_032504.2:c.9059+9C>T
NM_001371986.1:c.9257+9C>T
NG_051361.1:g.215402C>T
More... 		11/23/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:UNC80
Accession:NM_032504
Location:INTRON

Gene Symbol:UNC80
Accession:NM_182587
Location:INTRON

Gene Symbol:UNC80
Accession:NM_001371986
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002084604 CLINVAR
dbSNP (RS) rs752162072 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene UNC80 CLINVAR
OMIM 612636 CLINVAR