RGD:13536208 Rat Genome Database

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Variant: RGD:13536208 -  Homo sapiens

RGD ID: 13536208
RS ID: rs970321804
ClinVar ID: CV503685
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  LOC127821287  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 62,473,677
GRCh38 11 62,706,205
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_235t2:c.-108T>C
LRG_235:g.8370T>C
NM_001386027.1:c.88-588T>C
NM_001386028.1:c.88-588T>C
More... 		02/22/2018 5 prime utr variant|intron variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_032667
Location:5UTRS;EXON

Gene Symbol:BSCL2
Accession:NM_001130702
Location:5UTRS;EXON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000608661 CLINVAR
dbSNP (RS) rs970321804 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene BSCL2 CLINVAR
  HNRNPUL2-BSCL2 CLINVAR
OMIM 606158 CLINVAR