The FAM46A gene homepage

NOTE: gene name changed from FAM46A to TENT5A

Osteogenesis Imperfecta Variant Database
General information
Gene symbol FAM46A
Gene name family with sequence similarity 46, member A
Chromosome 6
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NC_000006.11
Transcript reference NM_017633.2
Exon/intron information NM_017633.2 exon/intron table
Associated with diseases OI, OI18
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Raymond Dalgleish
Total number of public variants reported 7
Unique public DNA variants reported 6
Individuals with public variants 3
Hidden variants 10
Download all this gene's data Download all data
Notes Alias C6orf37, FAM46A.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
This database is supported by , Osteogenesis Imperfecta Federation Europe (OIFE)
Date created May 03, 2013
Date last updated May 12, 2021
Version FAM46A: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_017633.2.
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/FAM46A
External URL Osteogenesis Imperfecta & Ehlers-Danlos syndrome variant databases
Osteogenesis Imperfecta Federation Europe (OIFE)
HGNC 18345
Entrez Gene 55603
PubMed articles FAM46A
OMIM - Gene 611357
OMIM - Diseases OI18 (osteogenesis imperfecta, type XVIII (OI18))
HGMD FAM46A
GeneCards FAM46A
GeneTests FAM46A
Orphanet FAM46A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007431 6 family with sequence similarity 46, member A NM_017633.2 NP_060103.2 7


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