Full database search - The Globin Gene Server - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the ATRX database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than ATRX, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
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.

1 public entry
entries per page

Path.

Exon

DNA change

DNA published

RNA change

Protein

Re-site

Frequency

Origin

DB-ID

Variant remarks

Disease

Reference

Template

Technique

Remarks

# Reported

Ethnic origin

Disease Mesh ID

Geographic origin


?/?	10	NM_000489.3:c.737G>T	-	-	NP_000480.2:p.R246L	-	-	-	ATRX_00036	-	ATR-X	Fichera et al., 1998	DNA	SEQ	-	1	-	-	-

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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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 Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported Ethnic origin: Ethnic origin of patient Disease Mesh ID: Mesh ID Geographic origin: Geographic origin of patient

The Globin Gene Server

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