RGD:15120071 Rat Genome Database

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Variant: RGD:15120071 -  Homo sapiens

RGD ID: 15120071
RS ID: rs780721865
ClinVar ID: CV695402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 100,880,511
GRCh38 8 99,868,283
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_007098.2:g.860018T>C
NC_000008.11:g.99868283T>C
NC_000008.10:g.100880511T>C
LRG_351t1:c.11291-6T>C
More... 		04/10/2022 intron variant benign|likely benign|conflicting interpretations of pathogenicity Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness; Pepper syndrome
Disease Annotations     Click to see Annotation Detail View
Cohen syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:VPS13B
Accession:NM_152564
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_017890
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_015243
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_181661
Location:INTRON

Gene Symbol:VPS13B
Accession:NR_047582
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000873991 CLINVAR
  RCV003920432 CLINVAR
dbSNP (RS) rs780721865 CLINVAR
MedGen C0265223 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR