RGD:11547810 Rat Genome Database

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Variant: RGD:11547810 -  Homo sapiens

RGD ID: 11547810
RS ID: rs185419295
ClinVar ID: CV256438
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: UNC13D  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 73,835,873
GRCh38 17 75,839,792
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_122t1:c.1055+47C>T
LRG_122:g.9926C>T
NG_007266.1:g.9926C>T
NC_000017.11:g.75839792G>A
More... 		intron variant likely benign AllHighlyPenetrant

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000248251 CLINVAR
dbSNP (RS) rs185419295 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene UNC13D CLINVAR
OMIM 608897 CLINVAR