The FAM47B gene homepage

General information
Gene symbol FAM47B
Gene name family with sequence similarity 47, member B
Chromosome X
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_021372.1
Transcript reference NM_152631.2
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 18
Unique public DNA variants reported 16
Individuals with public variants 29
Hidden variants 7
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated February 08, 2021
Version FAM47B:210208

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Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 26659
Entrez Gene 170062
PubMed articles FAM47B
HGMD FAM47B
GeneCards FAM47B
GeneTests FAM47B
Orphanet FAM47B


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001552 X family with sequence similarity 47, member B NM_152631.2 NP_689844.2 18


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