RGD:15117110 Rat Genome Database

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Variant: RGD:15117110 -  Homo sapiens

RGD ID: 15117110
RS ID: rs1590808648
ClinVar ID: CV759928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127821451  VPS51  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 64,863,958
GRCh38 11 65,096,486
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_013265.4:c.228+8C>T
NC_000011.10:g.65096486C>T
NC_000011.9:g.64863958C>T
NM_013265.3:c.228+8C>T
 05/14/2018 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:VPS51
Accession:NM_013265
Location:INTRON

Gene Symbol:VPS51
Accession:NR_073519
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000917742 CLINVAR
dbSNP (RS) rs1590808648 CLINVAR
MedGen CN517202 CLINVAR
NCBI Gene VPS51 CLINVAR
OMIM 615738 CLINVAR