FAM123B gene homepage

NOTE: gene symbol was recently changed from FAM123B to AMER1.
General information
Gene symbol FAM123B
Gene name family with sequence similarity 123B
Chromosome X
Chromosomal band q11.1
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_152424.3
Associated with diseases OSCS
Citation reference(s) -
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 54
Unique public DNA variants reported 43
Individuals with public variants 3
Hidden variants 0
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from FAM123B to AMER1.
Alias FAM123B.
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 July 12, 2019
Version FAM123B:190712

Graphical displays and utilities
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
Homepage URL https://www.LOVD.nl/AMER1
External URL Orphanet
HGNC 26837
Entrez Gene 139285
PubMed articles FAM123B
OMIM - Gene 300647
OMIM - Diseases OSCS (osteopathia striata with cranial sclerosis (OSCS))
GeneCards FAM123B
GeneTests FAM123B

Active transcripts




NCBI ID     

NCBI Protein ID     

00001547 X family with sequence similarity 123B NM_152424.3 NP_689637.3 54

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