RGD:14396459 Rat Genome Database

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Variant: RGD:14396459 -  Homo sapiens

RGD ID: 14396459
RS ID: rs1565142553
ClinVar ID: CV612354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 62,457,995
GRCh38 11 62,690,523
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001386028.1:c.1235-2A>C
LRG_235t2:c.1043-2A>C
NG_008461.1:g.24052A>C
LRG_235t1:c.1235-2A>C
More... 		12/30/2017 splice acceptor variant likely pathogenic Berardinelli syndrome; BRUNZELL SYNDROME, BSCL2-RELATED; Seip syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_001130702
Location:3UTRS;INTRON

Gene Symbol:BSCL2
Accession:NM_001386027
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:11916958  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000761421 CLINVAR
dbSNP (RS) rs1565142553 CLINVAR
MedGen C1720863 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 269700 CLINVAR
  606158 CLINVAR