present in Gene: BSND
present in Chromosome: 1
Position on Chromosome: 54999208
Alleles of this Variant: C/T
rs74315285 in
BSND gene and
BARTTER SYNDROME, TYPE 4A
PMID 12574213 2003 Atypical Bartter syndrome with sensorineural deafness with G47R mutation of the beta-subunit for ClC-Ka and ClC-Kb chloride channels, barttin.
PMID 12761627 2003 Molecular mechanisms of Bartter syndrome caused by mutations in the BSND gene.
PMID 12111250 2002 Barttin increases surface expression and changes current properties of ClC-K channels.
PMID 11687798 2001 Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure.