RGD:12741446 Rat Genome Database

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Variant: RGD:12741446 -  Homo sapiens

RGD ID: 12741446
RS ID: rs759374475
ClinVar ID: CV357736
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: VPS13B  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 100,847,553
GRCh38 8 99,835,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_351t1:c.9817+1G>T
LRG_351:g.827060G>T
NG_007098.2:g.827060G>T
NC_000008.11:g.99835325G>T
More... 		05/24/2016 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_181661
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_017890
Location:INTRON

Gene Symbol:VPS13B
Accession:NM_152564
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000411617 CLINVAR
dbSNP (RS) rs759374475 CLINVAR
MedGen C0265223 CLINVAR
NCBI Gene VPS13B CLINVAR
OMIM 216550 CLINVAR
  607817 CLINVAR
SNOMED CT 56604005 CLINVAR