RGD:11543772 Rat Genome Database

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Variant: RGD:11543772 -  Homo sapiens

RGD ID: 11543772
RS ID: rs79586077
ClinVar ID: CV254224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 62,460,120
GRCh38 11 62,692,648
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122955.3:c.765+15C>T
NM_032667.6:c.573+15C>T
NG_008461.1:g.21927C>T
NC_000011.10:g.62692648G>A
More... 		01/12/2018 intron variant benign AllHighlyPenetrant; Berardinelli syndrome; BRUNZELL SYNDROME, BSCL2-RELATED; Charcot-Marie-Tooth, Type 2; DHMN VA; Distal Spinal Muscular Atrophy V; NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 5; none provided; Seip syndrome

Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_001386028
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001130702
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001122955
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_032667
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001386027
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000242906 CLINVAR
  RCV000305595 CLINVAR
  RCV000358073 CLINVAR
  RCV001640508 CLINVAR
  RCV002057975 CLINVAR
dbSNP (RS) rs79586077 CLINVAR
MedGen C0270914 CLINVAR
  C1720863 CLINVAR
  C3661900 CLINVAR
  C5399969 CLINVAR
  CN169374 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 269700 CLINVAR
  600794 CLINVAR
  606158 CLINVAR