RGD:8558136 Rat Genome Database

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Variant: RGD:8558136 -  Homo sapiens

RGD ID: 8558136
RS ID: rs786205072
ClinVar ID: CV19580
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 62,459,843
GRCh38 11 62,692,371
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001122955.4:c.863+5G>A
NM_001386027.1:c.863+5G>A
NM_001386028.1:c.863+5G>A
NM_032667.6:c.671+5G>A
More... 		02/01/2020 intron variant pathogenic|uncertain significance neonatal/infancy 1-9 / 1 000 000 Berardinelli syndrome; BRUNZELL SYNDROME, BSCL2-RELATED; Familial spastic paraparesis; Seip syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_001386027
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001130702
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001386028
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001122955
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_032667
Location:INTRON

Gene Symbol:HNRNPUL2-BSCL2
Accession:NR_037946
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:11479539   PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000004799 CLINVAR
  RCV001847581 CLINVAR
  RCV003311644 CLINVAR
dbSNP (RS) rs786205072 CLINVAR
MedGen C0037773 CLINVAR
  C1720863 CLINVAR
  CN262437 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 269700 CLINVAR
  606158 CLINVAR
OMIM Allele 606158.0011 CLINVAR
SNOMED CT 39912006 CLINVAR