The B9D1 gene homepage

General information
Gene symbol B9D1
Gene name B9 protein domain 1
Chromosome 17
Chromosomal band p11.2
Imprinted Unknown
Genomic reference NG_031885.2
Transcript reference NM_015681.3
Exon/intron information NM_015681.3 exon/intron table
Associated with diseases ID, JBTS, JBTS27, MKS9
Citation reference(s) PubMed: Hopp 2011
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 49
Unique public DNA variants reported 38
Individuals with public variants 209
Hidden variants 6
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
We gratefully acknowledge the support of Juha Muilu acting as curator until 2015.
Date created September 13, 2012
Date last updated July 07, 2023
Version B9D1:230707

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_015681.3.
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/B9D1
HGNC 24123
Entrez Gene 27077
PubMed articles B9D1
OMIM - Gene 614144
OMIM - Diseases JBTS27 (Joubert syndrome, type 27 (JBTS27))
MKS9 (Meckel syndrome, type 9 (MKS-9))
HGMD B9D1
GeneCards B9D1
GeneTests B9D1
Orphanet B9D1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025627 17 transcript variant 2 NM_015681.3 NP_056496.1 49


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