SCNN1B gene homepage

General information
Gene symbol SCNN1B
Gene name sodium channel, non-voltage-gated 1, beta subunit
Chromosome 16
Chromosomal band p12.2-p12.1
Imprinted Unknown
Genomic reference NG_011908.1
Transcript reference NM_000336.2
Exon/intron information NM_000336.2 exon/intron table
Associated with diseases BESC-1, LIDLS, PHA-1B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Abul Kalam Azad
Total number of public variants reported 39
Unique public DNA variants reported 32
Individuals with public variants 22
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 09, 2009
Date last updated May 24, 2019
Version SCNN1B:190524

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_000336.2.
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/SCNN1B
External URL Orphanet
HGNC 10600
Entrez Gene 6338
PubMed articles SCNN1B
OMIM - Gene 600760
OMIM - Diseases BESC-1 (bronchiectasis, with/without elevated sweat chloride, type 1, modifier of (BESC-1))
LIDLS (syndrome, Liddle (LIDLS))
PHA-1B (pseudohypoaldosteronism type 1 autosomal recessive (PHA-1B))
HGMD SCNN1B
GeneCards SCNN1B
GeneTests SCNN1B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018530 16 sodium channel, nonvoltage-gated 1, beta NM_000336.2 NP_000327.2 39


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