BSND (barttin CLCNK type accessory subunit beta) - Rat Genome Database

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Gene: BSND (barttin CLCNK type accessory subunit beta) Homo sapiens
Analyze
Symbol: BSND
Name: barttin CLCNK type accessory subunit beta
RGD ID: 1346772
HGNC Page HGNC
Description: Is predicted to contribute to chloride channel activity. Predicted to be involved in chloride transport. Predicted to localize to basolateral plasma membrane; integral component of plasma membrane; and protein-containing complex. Implicated in Bartter disease; Bartter disease type 4a; and sensorineural hearing loss.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BART; Bartter syndrome, infantile, with sensorineural deafness (Barttin); barttin; barttin CLCNK type accessory beta subunit; barttin CLCNK-type chloride channel accessory beta subunit; deafness, autosomal recessive 73; DFNB73; MGC119283; MGC119284; MGC119285
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: BSNDP1   BSNDP2   BSNDP3   BSNDP4  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl154,998,933 - 55,017,172 (+)EnsemblGRCh38hg38GRCh38
GRCh38154,998,933 - 55,017,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37155,464,606 - 55,482,845 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36155,237,205 - 55,247,053 (+)NCBINCBI36hg18NCBI36
Build 34155,176,637 - 55,186,485NCBI
Celera153,752,220 - 53,762,073 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef153,578,679 - 53,587,911 (+)NCBIHuRef
CHM1_1155,580,238 - 55,590,632 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Acute kidney injury  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bilateral sensorineural hearing impairment  (IAGP)
Clumsiness  (IAGP)
Congenital onset  (IAGP)
Decreased glomerular filtration rate  (IAGP)
Dehydration  (IAGP)
Delayed ability to stand  (IAGP)
Delayed ability to walk  (IAGP)
Edema  (IAGP)
Emotional lability  (IAGP)
Failure to thrive  (IAGP)
Fetal polyuria  (IAGP)
Generalized hypotonia  (IAGP)
Global glomerulosclerosis  (IAGP)
Heterogeneous  (IAGP)
Hydrops fetalis  (IAGP)
Hyperactive renin-angiotensin system  (IAGP)
Hyperaldosteronism  (IAGP)
Hypercalciuria  (IAGP)
Hyperchloriduria  (IAGP)
Hypernatriuria  (IAGP)
Hyperprostaglandinuria  (IAGP)
Hypochloremia  (IAGP)
Hypokalemia  (IAGP)
Hypokalemic hypochloremic metabolic alkalosis  (IAGP)
Hypokalemic metabolic alkalosis  (IAGP)
Hypomagnesemia  (IAGP)
Hyponatremia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Impaired renal concentrating ability  (IAGP)
Increased circulating renin level  (IAGP)
Increased urinary potassium  (IAGP)
Intellectual disability  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Nasogastric tube feeding  (IAGP)
Nephrocalcinosis  (IAGP)
Polyhydramnios  (IAGP)
Polyuria  (IAGP)
Premature birth  (IAGP)
Protruding ear  (IAGP)
Reduced renal corticomedullary differentiation  (IAGP)
Renal insufficiency  (IAGP)
Renal salt wasting  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe failure to thrive  (IAGP)
Small for gestational age  (IAGP)
Stage 5 chronic kidney disease  (IAGP)
Triangular face  (IAGP)
Tubulointerstitial fibrosis  (IAGP)
Vomiting  (IAGP)
References

Additional References at PubMed
PMID:11734858   PMID:12111250   PMID:12477932   PMID:12574213   PMID:12761627   PMID:15489334   PMID:15496163   PMID:16572343   PMID:16773427   PMID:16849430   PMID:17510212   PMID:17652939  
PMID:17954364   PMID:18094726   PMID:18776122   PMID:18843510   PMID:19096086   PMID:19646679   PMID:19913121   PMID:20301607   PMID:20628086   PMID:21269598   PMID:21541222   PMID:21832049  
PMID:21873635   PMID:23110775   PMID:25085501   PMID:25416956   PMID:26013830   PMID:26063802   PMID:26453302   PMID:28470573   PMID:29674316   PMID:30021884   PMID:32184353   PMID:32296183  
PMID:32814053  


Genomics

Comparative Map Data
BSND
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl154,998,933 - 55,017,172 (+)EnsemblGRCh38hg38GRCh38
GRCh38154,998,933 - 55,017,172 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37155,464,606 - 55,482,845 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36155,237,205 - 55,247,053 (+)NCBINCBI36hg18NCBI36
Build 34155,176,637 - 55,186,485NCBI
Celera153,752,220 - 53,762,073 (+)NCBI
Cytogenetic Map1p32.3NCBI
HuRef153,578,679 - 53,587,911 (+)NCBIHuRef
CHM1_1155,580,238 - 55,590,632 (+)NCBICHM1_1
Bsnd
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394106,340,653 - 106,349,440 (-)NCBIGRCm39mm39
GRCm39 Ensembl4106,340,653 - 106,349,480 (-)Ensembl
GRCm384106,483,456 - 106,492,243 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4106,483,456 - 106,492,283 (-)EnsemblGRCm38mm10GRCm38
MGSCv374106,156,061 - 106,164,848 (-)NCBIGRCm37mm9NCBIm37
MGSCv364105,981,388 - 105,990,172 (-)NCBImm8
Celera4104,844,413 - 104,853,119 (-)NCBICelera
Cytogenetic Map4C7NCBI
Bsnd
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.25121,251,774 - 121,260,571 (-)NCBI
Rnor_6.0 Ensembl5126,071,846 - 126,080,698 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.05126,071,849 - 126,080,647 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.05129,918,748 - 129,927,546 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45127,542,219 - 127,551,017 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.15127,547,444 - 127,556,243 (-)NCBI
Celera5120,001,260 - 120,010,060 (-)NCBICelera
Cytogenetic Map5q34NCBI
Bsnd
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554644,459,628 - 4,468,927 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554644,459,686 - 4,468,749 (-)NCBIChiLan1.0ChiLan1.0
BSND
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1155,869,495 - 55,879,674 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl155,869,495 - 55,879,674 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0154,281,736 - 54,292,159 (+)NCBIMhudiblu_PPA_v0panPan3
BSND
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1554,225,393 - 54,239,305 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl554,225,389 - 54,237,110 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha554,294,651 - 54,310,910 (-)NCBI
ROS_Cfam_1.0554,413,340 - 54,426,512 (-)NCBI
UMICH_Zoey_3.1554,410,446 - 54,426,677 (-)NCBI
UNSW_CanFamBas_1.0554,300,457 - 54,315,533 (-)NCBI
UU_Cfam_GSD_1.0554,688,907 - 54,702,075 (-)NCBI
Bsnd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505869,077,490 - 69,086,314 (+)NCBI
SpeTri2.0NW_0049365226,329,981 - 6,338,825 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
BSND
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6157,425,878 - 157,432,577 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16157,424,389 - 157,432,571 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26145,489,124 - 145,496,137 (-)NCBISscrofa10.2Sscrofa10.2susScr3
BSND
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12077,943,853 - 77,960,883 (-)NCBI
ChlSab1.1 Ensembl2077,940,881 - 77,955,094 (-)Ensembl
Bsnd
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248624,917,196 - 4,927,139 (-)NCBI

Position Markers
D1S2652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37155,466,845 - 55,466,944UniSTSGRCh37
Build 36155,239,433 - 55,239,532RGDNCBI36
Celera153,754,448 - 53,754,545RGD
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map1pUniSTS
HuRef153,580,382 - 53,580,475UniSTS
Marshfield Genetic Map180.77UniSTS
Marshfield Genetic Map180.77RGD
Genethon Genetic Map182.6UniSTS
deCODE Assembly Map177.15UniSTS
Whitehead-YAC Contig Map1 UniSTS
G60531  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37155,466,834 - 55,467,121UniSTSGRCh37
Build 36155,239,422 - 55,239,709RGDNCBI36
Celera153,754,437 - 53,754,722RGD
Cytogenetic Map1p32.1UniSTS
HuRef153,580,371 - 53,580,652UniSTS
TNG Radiation Hybrid Map129987.0UniSTS
PMC153210P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37Un18,654 - 18,792UniSTSGRCh37
GRCh37Un109,560 - 109,698UniSTSGRCh37
GRCh37Un153,532 - 153,670UniSTSGRCh37
BSND_8762  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37155,473,924 - 55,474,492UniSTSGRCh37
Build 36155,246,512 - 55,247,080RGDNCBI36
Celera153,761,532 - 53,762,100RGD
HuRef153,587,370 - 53,587,938UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1082
Count of miRNA genes:710
Interacting mature miRNAs:810
Transcripts:ENST00000371265
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage pharyngeal arch
High
Medium 12 12 127 5 6
Low 110 168 139 152 6 129 1 593 86 366 28 130 5 2
Below cutoff 842 1214 697 163 860 136 2213 484 2401 52 600 816 28 458 1494

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000651561   ⟹   ENSP00000498282
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl154,998,933 - 55,017,172 (+)Ensembl
RefSeq Acc Id: NM_057176   ⟹   NP_476517
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38154,998,933 - 55,017,172 (+)NCBI
GRCh37155,464,617 - 55,474,465 (+)ENTREZGENE
Build 36155,237,205 - 55,247,053 (+)NCBI Archive
HuRef153,578,679 - 53,587,911 (+)ENTREZGENE
CHM1_1155,580,238 - 55,590,632 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_476517   ⟸   NM_057176
- UniProtKB: Q8WZ55 (UniProtKB/Swiss-Prot),   Q5VU50 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000498282   ⟸   ENST00000651561


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_057176.3(BSND):c.1A>T (p.Met1Leu) single nucleotide variant Bartter disease type 4a [RCV000004630] Chr1:54999187 [GRCh38]
Chr1:55464860 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.22C>T (p.Arg8Trp) single nucleotide variant Bartter disease type 4a [RCV000004631]|Bartter syndrome [RCV001273324]|not provided [RCV001051021] Chr1:54999208 [GRCh38]
Chr1:55464881 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic
BSND, IVS1, 41-BP DEL deletion Bartter disease type 4a [RCV000004632] Chr1:1p31 pathogenic
BSND, EX3-EX4 DEL deletion Bartter disease type 4a [RCV000004633] Chr1:1p31 pathogenic
NM_057176.3(BSND):c.3G>A (p.Met1Ile) single nucleotide variant Bartter disease type 4a [RCV000004634]|Bartter syndrome [RCV001272340]|not provided [RCV001057884] Chr1:54999189 [GRCh38]
Chr1:55464862 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic
NM_057176.3(BSND):c.28G>A (p.Gly10Ser) single nucleotide variant Bartter disease type 4a [RCV000004635] Chr1:54999214 [GRCh38]
Chr1:55464887 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.23G>T (p.Arg8Leu) single nucleotide variant Bartter disease type 4a [RCV000004636] Chr1:54999209 [GRCh38]
Chr1:55464882 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.139G>A (p.Gly47Arg) single nucleotide variant Bartter disease type 4a [RCV000004637]|not provided [RCV001058739] Chr1:54999325 [GRCh38]
Chr1:55464998 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.35T>C (p.Ile12Thr) single nucleotide variant Autosomal recessive non-syndromic sensorineural deafness type DFNB [RCV001291206]|Bartter disease type 4a [RCV000785598]|Sensorineural deafness with mild renal dysfunction [RCV000004638]|not provided [RCV001214565] Chr1:54999221 [GRCh38]
Chr1:55464894 [GRCh37]
Chr1:1p32.3		 pathogenic|likely pathogenic|uncertain significance
NM_057176.3(BSND):c.10G>T (p.Glu4Ter) single nucleotide variant Sensorineural deafness with mild renal dysfunction [RCV000004639] Chr1:54999196 [GRCh38]
Chr1:55464869 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.413_415del (p.Gln138del) deletion not provided [RCV000722615] Chr1:55007135..55007137 [GRCh38]
Chr1:55472808..55472810 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.*14C>T single nucleotide variant not specified [RCV000039814] Chr1:55008642 [GRCh38]
Chr1:55474315 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.127G>A (p.Val43Ile) single nucleotide variant Bartter disease type 4a [RCV000288895]|Bartter syndrome [RCV001273325]|not provided [RCV000710755]|not specified [RCV000039815] Chr1:54999313 [GRCh38]
Chr1:55464986 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.177+11G>A single nucleotide variant Bartter disease type 4a [RCV000350902]|not specified [RCV000039816] Chr1:54999374 [GRCh38]
Chr1:55465047 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.177+15G>C single nucleotide variant not specified [RCV000039817] Chr1:54999378 [GRCh38]
Chr1:55465051 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.177+7G>A single nucleotide variant not specified [RCV000039818] Chr1:54999370 [GRCh38]
Chr1:55465043 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.189C>T (p.Val63=) single nucleotide variant Bartter disease type 4a [RCV000389182]|not provided [RCV000826978]|not specified [RCV000039819] Chr1:55005033 [GRCh38]
Chr1:55470706 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_057176.3(BSND):c.63C>T (p.Leu21=) single nucleotide variant Bartter disease type 4a [RCV000328993]|not provided [RCV000883545]|not specified [RCV000039820] Chr1:54999249 [GRCh38]
Chr1:55464922 [GRCh37]
Chr1:1p32.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) single nucleotide variant not provided [RCV000727291]|not specified [RCV000039821] Chr1:55008516 [GRCh38]
Chr1:55474189 [GRCh37]
Chr1:1p32.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.917T>C (p.Leu306Pro) single nucleotide variant Bartter disease type 4a [RCV001098970]|not specified [RCV000039822] Chr1:55008582 [GRCh38]
Chr1:55474255 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.924G>A (p.Pro308=) single nucleotide variant Bartter disease type 4a [RCV000576696]|Bartter syndrome [RCV001273329]|not specified [RCV000039823] Chr1:55008589 [GRCh38]
Chr1:55474262 [GRCh37]
Chr1:1p32.3		 benign|likely benign
GRCh38/hg38 1p32.3-31.3(chr1:50222546-61618373)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051819]|See cases [RCV000051819] Chr1:50222546..61618373 [GRCh38]
Chr1:50688218..62084045 [GRCh37]
Chr1:50460805..61856633 [NCBI36]
Chr1:1p32.3-31.3		 pathogenic
GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3 copy number gain See cases [RCV000051822] Chr1:52595352..76767765 [GRCh38]
Chr1:53061024..77233450 [GRCh37]
Chr1:52833612..77006038 [NCBI36]
Chr1:1p32.3-31.1		 pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1 copy number loss See cases [RCV000053839] Chr1:53738212..61439648 [GRCh38]
Chr1:54203885..61905320 [GRCh37]
Chr1:53976473..61677908 [NCBI36]
Chr1:1p32.3-31.3		 pathogenic
NM_057176.2(BSND):c.874G>A (p.Glu292Lys) single nucleotide variant Malignant melanoma [RCV000064831] Chr1:55008539 [GRCh38]
Chr1:55474212 [GRCh37]
Chr1:55246800 [NCBI36]
Chr1:1p32.3		 not provided
NM_057176.2(BSND):c.300G>A (p.Arg100=) single nucleotide variant Malignant melanoma [RCV000060219] Chr1:55007024 [GRCh38]
Chr1:55472697 [GRCh37]
Chr1:55245285 [NCBI36]
Chr1:1p32.3		 not provided
NM_057176.3(BSND):c.821A>C (p.Lys274Thr) single nucleotide variant not specified [RCV000602998] Chr1:55008486 [GRCh38]
Chr1:55474159 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1 copy number loss See cases [RCV000139470] Chr1:53627272..64248854 [GRCh38]
Chr1:54092945..64714537 [GRCh37]
Chr1:53865533..64487125 [NCBI36]
Chr1:1p32.3-31.3		 pathogenic
GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3 copy number gain See cases [RCV000141758] Chr1:52787503..67339873 [GRCh38]
Chr1:53253175..67805556 [GRCh37]
Chr1:53025763..67578144 [NCBI36]
Chr1:1p32.3-31.3		 likely pathogenic
NM_057176.3(BSND):c.872A>G (p.Glu291Gly) single nucleotide variant not specified [RCV000150218] Chr1:55008537 [GRCh38]
Chr1:55474210 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.457G>A (p.Asp153Asn) single nucleotide variant Bartter disease type 4a [RCV001097210]|not specified [RCV000155035] Chr1:55007181 [GRCh38]
Chr1:55472854 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.744G>A (p.Thr248=) single nucleotide variant Bartter syndrome [RCV001273327]|not provided [RCV000178379] Chr1:55008409 [GRCh38]
Chr1:55474082 [GRCh37]
Chr1:1p32.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.-241G>A single nucleotide variant Bartter disease type 4a [RCV000259962] Chr1:54998946 [GRCh38]
Chr1:55464619 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.216C>A (p.Ile72=) single nucleotide variant Bartter disease type 4a [RCV000292589] Chr1:55005060 [GRCh38]
Chr1:55470733 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.459C>T (p.Asp153=) single nucleotide variant Bartter disease type 4a [RCV001097211]|not provided [RCV000971714]|not specified [RCV000215413] Chr1:55007183 [GRCh38]
Chr1:55472856 [GRCh37]
Chr1:1p32.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_057176.3(BSND):c.102C>T (p.Tyr34=) single nucleotide variant Bartter disease type 4a [RCV000381206]|Bartter syndrome [RCV001273284]|not provided [RCV000725962]|not specified [RCV000215468] Chr1:54999288 [GRCh38]
Chr1:55464961 [GRCh37]
Chr1:1p32.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
NM_057176.3(BSND):c.183C>T (p.Thr61=) single nucleotide variant not provided [RCV000926717]|not specified [RCV000218477] Chr1:55005027 [GRCh38]
Chr1:55470700 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.375T>C (p.Ser125=) single nucleotide variant not provided [RCV000975317]|not specified [RCV000218587] Chr1:55007099 [GRCh38]
Chr1:55472772 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.315C>T (p.Ala105=) single nucleotide variant not provided [RCV000978843]|not specified [RCV000222819] Chr1:55007039 [GRCh38]
Chr1:55472712 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.425G>A (p.Gly142Glu) single nucleotide variant not provided [RCV000980216]|not specified [RCV000222885] Chr1:55007149 [GRCh38]
Chr1:55472822 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.409G>C (p.Gly137Arg) single nucleotide variant not specified [RCV000218996] Chr1:55007133 [GRCh38]
Chr1:55472806 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.951C>A (p.Asp317Glu) single nucleotide variant not specified [RCV000216617] Chr1:55008616 [GRCh38]
Chr1:55474289 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.597T>C (p.Asp199=) single nucleotide variant Bartter disease type 4a [RCV001097213]|not provided [RCV000949646]|not specified [RCV000219125] Chr1:55008262 [GRCh38]
Chr1:55473935 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.309G>C (p.Glu103Asp) single nucleotide variant Bartter disease type 4a [RCV000349517]|Bartter syndrome [RCV001273288]|not provided [RCV000841413]|not specified [RCV000215241] Chr1:55007033 [GRCh38]
Chr1:55472706 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_057176.3(BSND):c.482C>T (p.Ala161Val) single nucleotide variant Bartter disease type 4a [RCV001331583]|Bartter syndrome [RCV001273326]|not specified [RCV000216940] Chr1:55007206 [GRCh38]
Chr1:55472879 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.713T>A (p.Phe238Tyr) single nucleotide variant Bartter disease type 4a [RCV000334301] Chr1:55008378 [GRCh38]
Chr1:55474051 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.-117T>C single nucleotide variant Bartter disease type 4a [RCV000268082] Chr1:54999070 [GRCh38]
Chr1:55464743 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.272+20G>A single nucleotide variant not provided [RCV000843528]|not specified [RCV000251810] Chr1:55005136 [GRCh38]
Chr1:55470809 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.-25C>T single nucleotide variant Bartter disease type 4a [RCV000271461]|not specified [RCV000615902] Chr1:54999162 [GRCh38]
Chr1:55464835 [GRCh37]
Chr1:1p32.3		 benign|likely benign|uncertain significance
NM_057176.3(BSND):c.-34G>A single nucleotide variant Bartter disease type 4a [RCV000377721] Chr1:54999153 [GRCh38]
Chr1:55464826 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.*24A>C single nucleotide variant Bartter disease type 4a [RCV000304051] Chr1:55008652 [GRCh38]
Chr1:55474325 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.-70C>G single nucleotide variant Bartter disease type 4a [RCV000320898] Chr1:54999117 [GRCh38]
Chr1:55464790 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.-156G>C single nucleotide variant Bartter disease type 4a [RCV000360477] Chr1:54999031 [GRCh38]
Chr1:55464704 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.*94A>G single nucleotide variant Bartter disease type 4a [RCV000361191] Chr1:55008722 [GRCh38]
Chr1:55474395 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) single nucleotide variant Bartter disease type 4a [RCV001100683]|not provided [RCV000281858] Chr1:54999202 [GRCh38]
Chr1:55464875 [GRCh37]
Chr1:1p32.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.27C>T (p.Ile9=) single nucleotide variant Bartter syndrome [RCV001278123] Chr1:54999213 [GRCh38]
Chr1:55464886 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.893G>A (p.Gly298Glu) single nucleotide variant Bartter disease type 4a [RCV000490312]|Bartter syndrome [RCV001273328]|not provided [RCV000835678] Chr1:55008558 [GRCh38]
Chr1:55474231 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.*175C>G single nucleotide variant Bartter syndrome [RCV000259789] Chr1:55008803 [GRCh38]
Chr1:55474476 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.-175C>T single nucleotide variant Bartter disease type 4a [RCV000298736] Chr1:54999012 [GRCh38]
Chr1:55464685 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.604G>A (p.Asp202Asn) single nucleotide variant Bartter disease type 4a [RCV000393858] Chr1:55008269 [GRCh38]
Chr1:55473942 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.696G>A (p.Arg232=) single nucleotide variant Bartter disease type 4a [RCV000300367] Chr1:55008361 [GRCh38]
Chr1:55474034 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.810C>T (p.Tyr270=) single nucleotide variant not specified [RCV000600894] Chr1:55008475 [GRCh38]
Chr1:55474148 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.527G>A (p.Arg176His) single nucleotide variant not provided [RCV000732463] Chr1:55007251 [GRCh38]
Chr1:55472924 [GRCh37]
Chr1:1p32.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) single nucleotide variant Bartter disease type 4a [RCV001331584]|Bartter syndrome [RCV001273290]|not provided [RCV000731639] Chr1:55008380 [GRCh38]
Chr1:55474053 [GRCh37]
Chr1:1p32.3		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_057176.3(BSND):c.575C>A (p.Ala192Asp) single nucleotide variant not provided [RCV000437341] Chr1:55008240 [GRCh38]
Chr1:55473913 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.572C>T (p.Pro191Leu) single nucleotide variant not provided [RCV000498699] Chr1:55008237 [GRCh38]
Chr1:55473910 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_057176.3(BSND):c.859G>T (p.Glu287Ter) single nucleotide variant Bartter disease type 4a [RCV000778246]|not specified [RCV000616285] Chr1:55008524 [GRCh38]
Chr1:55474197 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.770A>G (p.Gln257Arg) single nucleotide variant not specified [RCV000607485] Chr1:55008435 [GRCh38]
Chr1:55474108 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.806G>A (p.Arg269Gln) single nucleotide variant not specified [RCV000600547] Chr1:55008471 [GRCh38]
Chr1:55474144 [GRCh37]
Chr1:1p32.3		 likely benign
GRCh37/hg19 1p32.3(chr1:55036657-55800829)x3 copy number gain not provided [RCV000684574] Chr1:55036657..55800829 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.452del (p.Pro151fs) deletion Bartter disease type 4a [RCV000722043] Chr1:55007174 [GRCh38]
Chr1:55472847 [GRCh37]
Chr1:1p32.3		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_057176.3(BSND):c.237C>T (p.Gly79=) single nucleotide variant Bartter syndrome [RCV001278125]|not provided [RCV000977057] Chr1:55005081 [GRCh38]
Chr1:55470754 [GRCh37]
Chr1:1p32.3		 benign|likely benign
NM_057176.3(BSND):c.651C>T (p.Asp217=) single nucleotide variant not provided [RCV000941011] Chr1:55008316 [GRCh38]
Chr1:55473989 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.547G>A (p.Gly183Ser) single nucleotide variant Bartter disease type 4a [RCV001097212]|Bartter syndrome [RCV001278126]|not provided [RCV000916337] Chr1:55007271 [GRCh38]
Chr1:55472944 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.262G>T (p.Glu88Ter) single nucleotide variant not provided [RCV000760449] Chr1:55005106 [GRCh38]
Chr1:55470779 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.843G>A (p.Ser281=) single nucleotide variant Bartter syndrome [RCV001273292]|not provided [RCV000927430] Chr1:55008508 [GRCh38]
Chr1:55474181 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.465G>A (p.Gln155=) single nucleotide variant not provided [RCV000942261] Chr1:55007189 [GRCh38]
Chr1:55472862 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.548+10T>C single nucleotide variant not provided [RCV000880971] Chr1:55007282 [GRCh38]
Chr1:55472955 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.417G>A (p.Pro139=) single nucleotide variant not provided [RCV000937050] Chr1:55007141 [GRCh38]
Chr1:55472814 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.9C>T (p.Asp3=) single nucleotide variant Bartter syndrome [RCV001278122]|not provided [RCV000943886] Chr1:54999195 [GRCh38]
Chr1:55464868 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.909C>T (p.Ala303=) single nucleotide variant Bartter syndrome [RCV001273293]|not provided [RCV000893161] Chr1:55008574 [GRCh38]
Chr1:55474247 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.197A>G (p.Asp66Gly) single nucleotide variant not specified [RCV000825871] Chr1:55005041 [GRCh38]
Chr1:55470714 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.402del (p.Glu135fs) deletion Bartter disease type 4a [RCV000778245] Chr1:55007126 [GRCh38]
Chr1:55472799 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.393G>A (p.Leu131=) single nucleotide variant Bartter syndrome [RCV001273289]|not provided [RCV000918095] Chr1:55007117 [GRCh38]
Chr1:55472790 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.282C>T (p.Pro94=) single nucleotide variant not provided [RCV000978341] Chr1:55007006 [GRCh38]
Chr1:55472679 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.75C>T (p.Leu25=) single nucleotide variant not provided [RCV000979067] Chr1:54999261 [GRCh38]
Chr1:55464934 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.126C>T (p.Ser42=) single nucleotide variant Bartter syndrome [RCV001273285]|not provided [RCV000921592] Chr1:54999312 [GRCh38]
Chr1:55464985 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.141G>C (p.Gly47=) single nucleotide variant Bartter syndrome [RCV001273286]|not provided [RCV000896465] Chr1:54999327 [GRCh38]
Chr1:55465000 [GRCh37]
Chr1:1p32.3		 benign|uncertain significance
NM_057176.3(BSND):c.842C>T (p.Ser281Leu) single nucleotide variant Bartter syndrome [RCV001273291]|not specified [RCV000825119] Chr1:55008507 [GRCh38]
Chr1:55474180 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NC_000001.11:g.55005136G>A single nucleotide variant not provided [RCV000843528] Chr1:55470809 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.225A>G (p.Pro75=) single nucleotide variant Bartter syndrome [RCV001273287]|not specified [RCV000825706] Chr1:55005069 [GRCh38]
Chr1:55470742 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.10G>A (p.Glu4Lys) single nucleotide variant Bartter disease type 4a [RCV001100682]|Bartter syndrome [RCV001273323]|not specified [RCV000825872] Chr1:54999196 [GRCh38]
Chr1:55464869 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.52C>G (p.Leu18Val) single nucleotide variant Bartter disease type 4a [RCV000785597] Chr1:54999238 [GRCh38]
Chr1:55464911 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.758C>T (p.Pro253Leu) single nucleotide variant Bartter disease type 4a [RCV001098969] Chr1:55008423 [GRCh38]
Chr1:55474096 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.*6T>C single nucleotide variant Bartter disease type 4a [RCV001098971] Chr1:55008634 [GRCh38]
Chr1:55474307 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
NM_057176.3(BSND):c.272+33T>G single nucleotide variant not provided [RCV000843183] Chr1:55005149 [GRCh38]
Chr1:55470822 [GRCh37]
Chr1:1p32.3		 benign
NM_057176.3(BSND):c.305G>A (p.Trp102Ter) single nucleotide variant not provided [RCV001243354] Chr1:55007029 [GRCh38]
Chr1:55472702 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.393G>T (p.Leu131Phe) single nucleotide variant Bartter disease type 4a [RCV001097209]|not specified [RCV001195414] Chr1:55007117 [GRCh38]
Chr1:55472790 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.*15G>A single nucleotide variant Bartter disease type 4a [RCV001098972] Chr1:55008643 [GRCh38]
Chr1:55474316 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.780A>G (p.Glu260=) single nucleotide variant not provided [RCV000932483] Chr1:55008445 [GRCh38]
Chr1:55474118 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.435T>C (p.Asp145=) single nucleotide variant not provided [RCV000907969] Chr1:55007159 [GRCh38]
Chr1:55472832 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.69G>A (p.Thr23=) single nucleotide variant Bartter syndrome [RCV001273283]|not provided [RCV000915022] Chr1:54999255 [GRCh38]
Chr1:55464928 [GRCh37]
Chr1:1p32.3		 likely benign|uncertain significance
NM_057176.3(BSND):c.876G>A (p.Glu292=) single nucleotide variant not provided [RCV000980645] Chr1:55008541 [GRCh38]
Chr1:55474214 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.825G>A (p.Val275=) single nucleotide variant not provided [RCV000932185] Chr1:55008490 [GRCh38]
Chr1:55474163 [GRCh37]
Chr1:1p32.3		 likely benign
NM_057176.3(BSND):c.470G>A (p.Trp157Ter) single nucleotide variant not provided [RCV001064732] Chr1:55007194 [GRCh38]
Chr1:55472867 [GRCh37]
Chr1:1p32.3		 pathogenic
NM_057176.3(BSND):c.306G>T (p.Trp102Cys) single nucleotide variant Bartter disease type 4a [RCV001097208] Chr1:55007030 [GRCh38]
Chr1:55472703 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.*56T>C single nucleotide variant Bartter disease type 4a [RCV001100776] Chr1:55008684 [GRCh38]
Chr1:55474357 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.272+1G>T single nucleotide variant not provided [RCV001039115] Chr1:55005117 [GRCh38]
Chr1:55470790 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NC_000001.11:g.(?_55006987)_(55008638_?)del deletion not provided [RCV001031443] Chr1:55472660..55474311 [GRCh37]
Chr1:1p32.3		 likely pathogenic
NM_057176.3(BSND):c.635A>G (p.Asn212Ser) single nucleotide variant Bartter disease type 4a [RCV001098968] Chr1:55008300 [GRCh38]
Chr1:55473973 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.261C>T (p.Ala87=) single nucleotide variant Bartter disease type 4a [RCV001100952] Chr1:55005105 [GRCh38]
Chr1:55470778 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.287C>T (p.Pro96Leu) single nucleotide variant not specified [RCV001195367] Chr1:55007011 [GRCh38]
Chr1:55472684 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.294T>C (p.Tyr98=) single nucleotide variant Bartter disease type 4a [RCV001100953] Chr1:55007018 [GRCh38]
Chr1:55472691 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1 copy number loss Brain malformations and urinary tract defects [RCV001263218] Chr1:53675707..66644963 [GRCh37]
Chr1:1p32.3-31.3		 pathogenic
NM_057176.3(BSND):c.64G>C (p.Gly22Arg) single nucleotide variant Bartter disease type 4a [RCV001280872] Chr1:54999250 [GRCh38]
Chr1:55464923 [GRCh37]
Chr1:1p32.3		 uncertain significance
GRCh37/hg19 1p32.3-32.2(chr1:51941877-56688514) copy number loss Abnormality of the kidney [RCV001352641] Chr1:51941877..56688514 [GRCh37]
Chr1:1p32.3-32.2		 pathogenic
NM_057176.3(BSND):c.214A>T (p.Ile72Phe) single nucleotide variant Bartter syndrome [RCV001278124] Chr1:55005058 [GRCh38]
Chr1:55470731 [GRCh37]
Chr1:1p32.3		 uncertain significance
NM_057176.3(BSND):c.915C>A (p.Asp305Glu) single nucleotide variant Bartter syndrome [RCV001278127] Chr1:55008580 [GRCh38]
Chr1:55474253 [GRCh37]
Chr1:1p32.3		 uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:16512 AgrOrtholog
COSMIC BSND COSMIC
Ensembl Genes ENSG00000162399 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000498282 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000651561 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000162399 GTEx
HGNC ID HGNC:16512 ENTREZGENE
Human Proteome Map BSND Human Proteome Map
InterPro Barttin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7809 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7809 ENTREZGENE
OMIM 602522 OMIM
  606412 OMIM
PANTHER PTHR28399 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Barttin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134911659 PharmGKB
UniProt BSND_HUMAN UniProtKB/Swiss-Prot
  Q5VU50 ENTREZGENE, UniProtKB/TrEMBL
  Q8WZ55 ENTREZGENE
UniProt Secondary Q6NT28 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2019-12-03 BSND  barttin CLCNK type accessory subunit beta  BSND  barttin CLCNK type accessory beta subunit  Symbol and/or name change 5135510 APPROVED
2016-02-10 BSND  barttin CLCNK type accessory beta subunit  BSND  barttin CLCNK-type chloride channel accessory beta subunit  Symbol and/or name change 5135510 APPROVED
2014-06-24 BSND  barttin CLCNK-type chloride channel accessory beta subunit  BSND  Bartter syndrome, infantile, with sensorineural deafness (Barttin)  Symbol and/or name change 5135510 APPROVED