RGD:11590626 Rat Genome Database

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Variant: RGD:11590626 -  Homo sapiens

RGD ID: 11590626
RS ID: rs2500341
ClinVar ID: CV281402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BSND  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 55,464,790
GRCh38 1 54,999,117
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.54999117C>G
NC_000001.10:g.55464790C>G
NM_057176.3:c.-70C>G
NG_008965.2:g.5185C>G
More...
07/10/2021 5 prime utr variant benign Bartter syndrome with sensorineural deafness; BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BSND
Accession:NM_057176
Location:5UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000320898 CLINVAR
  RCV001597043 CLINVAR
dbSNP (RS) rs2500341 CLINVAR
MedGen C1865270 CLINVAR
  C3661900 CLINVAR
NCBI Gene BSND CLINVAR
OMIM 602522 CLINVAR
  606412 CLINVAR