The FAM46D gene homepage

NOTE: gene name changed from FAM46D to TENT5D
General information
Gene symbol FAM46D
Gene name family with sequence similarity 46, member D
Chromosome X
Chromosomal band q21.1
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_001170574.1
Exon/intron information NM_001170574.1 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 5
Unique public DNA variants reported 5
Individuals with public variants 138
Hidden variants 2
Download all this gene's data Download all data
Notes Alias FAM46D.
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 May 12, 2021
Version FAM46D:210512

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_001170574.1.
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/TENT5D
HGNC 28399
Entrez Gene 169966
PubMed articles FAM46D
OMIM - Gene 300976
HGMD FAM46D
GeneCards FAM46D
GeneTests FAM46D
Orphanet FAM46D


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025613 X transcript variant 1 NM_001170574.1 NP_001164045.1 5


Copyright & disclaimer
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