FAM47C gene homepage

General information
Gene symbol FAM47C
Gene name family with sequence similarity 47, member C
Chromosome X
Chromosomal band p21.1
Imprinted Unknown
Genomic reference NG_021373.1
Transcript reference NM_001013736.2
Exon/intron information NM_001013736.2 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 37
Unique public DNA variants reported 33
Individuals with public variants 10
Hidden variants 0
Download all this gene's data Download all data
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.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 06, 2009
Date last updated August 17, 2018
Version FAM47C:180817

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_001013736.2.
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/FAM47C
HGNC 25301
Entrez Gene 442444
PubMed articles FAM47C
HGMD FAM47C
GeneCards FAM47C
GeneTests FAM47C


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000629 X family with sequence similarity 47, member C NM_001013736.2 NP_001013758.1 37


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