RGD:12741406 Rat Genome Database

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Variant: RGD:12741406 -  Homo sapiens

RGD ID: 12741406
RS ID: rs1057517063
ClinVar ID: CV357741
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 100,847,967
GRCh38 8 99,835,739
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_152564.5:c.9942+1G>A
LRG_351t1:c.10017+1G>A
LRG_351:g.827474G>A
NG_007098.2:g.827474G>A
More... 		08/12/2021 splice donor variant likely pathogenic infancy 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_015243
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_152564
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_017890
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:15141358   PMID:16199547   PMID:16648375   PMID:20461111   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409975 CLINVAR
dbSNP (RS) rs1057517063 CLINVAR
MedGen C0265223 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR