RGD:13467912 Rat Genome Database

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Variant: RGD:13467912 -  Homo sapiens

RGD ID: 13467912
RS ID: rs373239557
ClinVar ID: CV468852
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC13D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,836,195
GRCh38 17 75,840,114
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_122t1:c.859-4G>A
NC_000017.10:g.73836195C>T
LRG_122:g.9604G>A
NG_007266.1:g.9604G>A
More... 		12/12/2023 intron variant likely benign|uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:UNC13D
Accession:NM_199242
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000556438 CLINVAR
dbSNP (RS) rs373239557 CLINVAR
MedGen C1837174 CLINVAR
NCBI Gene UNC13D CLINVAR
OMIM 608897 CLINVAR
  608898 CLINVAR