RGD:8617427 Rat Genome Database

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Variant: RGD:8617427 -  Homo sapiens

RGD ID: 8617427
RS ID: rs386834119
ClinVar ID: CV71338
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 100,844,596
GRCh38 8 99,832,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_007098.2:g.824103G>T
NC_000008.11:g.99832368G>T
NC_000008.10:g.100844596G>T
LRG_351t1:c.9406-1G>T
More... 		05/28/2019 splice acceptor variant|splice-3 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity neonatal/infancy Cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness; none provided; Pepper syndrome
Disease Annotations     Click to see Annotation Detail View
Cohen syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:VPS13B
Accession:NM_015243
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_017890
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_152564
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:15154116   PMID:16917849   PMID:19190672   PMID:23188044   PMID:24334764   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000050112 CLINVAR
  RCV003313035 CLINVAR
  RCV003415820 CLINVAR
dbSNP (RS) rs386834119 CLINVAR
MedGen C0265223 CLINVAR
  C3661900 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR