RGD:14716220 Rat Genome Database

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Variant: RGD:14716220 -  Homo sapiens

RGD ID: 14716220
ClinVar ID: CV671346
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSCL2  HNRNPUL2-BSCL2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 62,459,994
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Clinical Significance Trait Synonyms
NM_032667.6:c.574-49T>C
NC_000011.10:g.62692522A>G
NC_000011.9:g.62459994A>G
 06/14/2018 benign

Variant Details
Variant Transcripts
Gene Symbol:BSCL2
Accession:NM_001122955
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_001130702
Location:INTRON

Gene Symbol:BSCL2
Accession:NM_032667
Location:INTRON

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

Variant Samples