rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
The ATRX-ADD domain binds to H3 tail peptides and reads the combined methylation state of K4 and K9.
21421568
2011
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
New mutations in XNP/ATR-X gene: a further contribution to genotype/phenotype relationship in ATR/X syndrome. Mutations in brief no. 176. Online.
10660327
1998
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
A
0.800
CausalMutation
CLINVAR
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Molecular genetic study of japanese patients with X-linked alpha-thalassemia/mental retardation syndrome (ATR-X).
10995512
2000
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome.
8968741
1996
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.
10204841
1999
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.
10417298
1999
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Expanding phenotype of XNP mutations: mild to moderate mental retardation.
12116232
2002
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
A novel transcription regulatory complex containing death domain-associated protein and the ATR-X syndrome protein.
14990586
2004
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Here, we describe a 4-year-old girl with typical features of ATRX syndrome , carrying the recurrent R246C mutation of ATRX.
16955409
2006
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
A point mutation in the XNP gene, associated with an ATR-X phenotype without alpha-thalassemia.
9043863
1996
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.
9326931
1997
rs122445105
×
Entrez Id:
546
Gene Symbol:
ATRX
ATRX
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, NONDELETION TYPE, X-LINKED
0.800
GeneticVariation
UNIPROT
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome).
7697714
1995