The MAMLD1 gene homepage

General information
Gene symbol MAMLD1
Gene name mastermind-like domain containing 1
Chromosome X
Chromosomal band q28
Imprinted Unknown
Genomic reference NG_017093.2
Transcript reference NM_001177465.1, NM_005491.3
Associated with diseases HYSP2
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 97
Unique public DNA variants reported 82
Individuals with public variants 30
Hidden variants 16
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.
Date created November 10, 2009
Date last updated February 26, 2024
Version MAMLD1:240226

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/MAMLD1
HGNC 2568
Entrez Gene 10046
PubMed articles MAMLD1
OMIM - Gene 300120
OMIM - Diseases HYSP2 (hypospadias, type 2, X-linked (HYSP-2))
HGMD MAMLD1
GeneCards MAMLD1
GeneTests MAMLD1
Orphanet MAMLD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000494 X transcript variant 2 NM_005491.3 NP_005482.2 97
00025399 X transcript variant 1 NM_001177465.1 NP_001170936.1 85


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