Search unique variants - The Globin Gene Server - Leiden Open Variation Database

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

About this overview [Show]

The variants below are all in the ATRX database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the ATRX full legend here.

11 entries
entries per page

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Origin

DB-ID

Variant remarks


-	c.234C>T	S78S	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00125	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.568_576delGCTTTTAAG	A190_S193>S	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00130	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.826A>G	T276A	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00133	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.1983C>G	H661Q	r.(?)	p.?	-	2/208	familial, X-linked	ATRX_00134	recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators
-	c.2173C>G	Q725E	r.(?)	p.?	-	39/208	familial, X-linked	ATRX_00124	recurrent, found 39 times; variant and/or predicted effect could not be not confirmed by curators
-	c.4253C>T	A1418V	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00126	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.4525C>T	P1509S	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00127	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.4967A>G	N1656S	r.(?)	p.?	-	2/208	familial, X-linked	ATRX_00128	recurrent, found 2 times; variant and/or predicted effect could not be not confirmed by curators
-	c.5642G>A	R1881H	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00129	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.6149A>C	H2050P	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00131	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators
-	c.6642C>T	Y2214Y	r.(?)	p.?	-	1/208	familial, X-linked	ATRX_00132	found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators

1 - 11

Click here to save this list in a tab-delimited text file.

Legend: [ ATRX full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. DNA published: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. Origin: Origin ATRX DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks

The Globin Gene Server

alpha thalassemia/mental retardation syndrome X-linked (ATRX)