RGD:13627058 Rat Genome Database

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Variant: RGD:13627058 -  Homo sapiens

RGD ID: 13627058
RS ID: rs754882266
ClinVar ID: CV531778
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127887968  UNC13D  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 73,831,727
GRCh38 17 75,835,646
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_122:g.14072G>A
NC_000017.11:g.75835646C>T
NG_007266.1:g.14072G>A
NC_000017.10:g.73831727C>T
More... 		04/18/2022 splice donor variant pathogenic|likely pathogenic
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:14622600   PMID:16199547   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000640104 CLINVAR
dbSNP (RS) rs754882266 CLINVAR
MedGen C1837174 CLINVAR
NCBI Gene UNC13D CLINVAR
OMIM 608897 CLINVAR
  608898 CLINVAR