The FAM46A gene homepage

NOTE: The gene symbol for FAM46A has been changed 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 (3) Raymond Dalgleish, Gerard Pals, and Dimitra Micha
Total number of public variants reported 14
Unique public DNA variants reported 11
Individuals with public variants 4
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 January 11, 2023
Version FAM46A:230111

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
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))
GeneCards FAM46A
GeneTests FAM46A
Orphanet FAM46A

Active transcripts




NCBI ID     

NCBI Protein ID     

00007431 6 family with sequence similarity 46, member A NM_017633.2 NP_060103.2 14

Copyright & disclaimer
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