The BSND gene homepage

General information
Gene symbol BSND
Gene name Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Chromosome 1
Chromosomal band p32.3
Imprinted Unknown
Genomic reference NG_008965.2
Transcript reference NM_057176.2
Exon/intron information NM_057176.2 exon/intron table
Associated with diseases BARTS4A
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 63
Unique public DNA variants reported 32
Individuals with public variants 81
Hidden variants 2
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 03, 2013
Date last updated November 07, 2023
Version BSND:231107

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_057176.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/BSND
HGNC 16512
Entrez Gene 7809
PubMed articles BSND
OMIM - Gene 606412
OMIM - Diseases BARTS4A (Bartter syndrome, type 4A (BARTS4A))
HGMD BSND
GeneCards BSND
GeneTests BSND
Orphanet BSND


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003516 1 Bartter syndrome, infantile, with sensorineural deafness (Barttin) NM_057176.2 NP_476517.1 63


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