RGD:26901391 Rat Genome Database

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Variant: RGD:26901391 -  Homo sapiens

RGD ID: 26901391
RS ID: rs1434569440
ClinVar ID: CV852463
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 100,847,554
GRCh38 8 99,835,326
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_351t1:c.9817+2T>C
LRG_351:g.827061T>C
NG_007098.2:g.827061T>C
NC_000008.11:g.99835326T>C
More... 		12/04/2019 splice donor variant likely pathogenic 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_017890
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_152564
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_181661
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_015243
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:15141358   PMID:16199547   PMID:16648375   PMID:20461111   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001035639 CLINVAR
  RCV003411960 CLINVAR
dbSNP (RS) rs1434569440 CLINVAR
MedGen C0265223 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR