RGD:11550479 Rat Genome Database

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Variant: RGD:11550479 -  Homo sapiens

RGD ID: 11550479
RS ID: rs79445756
ClinVar ID: CV249982
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 55,470,809
GRCh38 1 55,005,136
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.55005136G>A
NC_000001.10:g.55470809G>A
NM_057176.3:c.272+20G>A
NM_057176.2:c.272+20G>A
More... 		12/17/2021 intron variant benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:BSND
Accession:NM_057176
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000251810 CLINVAR
  RCV000843528 CLINVAR
dbSNP (RS) rs79445756 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 606412 CLINVAR