LOVD - Variant listings for ATRX

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Patient data (#0002027)
Disease mental retardation, X-linked
Reference Tarpey 2009, United Kingdom (Great Britain):Cambridge
Template DNA
Technique SEQ
Remarks for details contact Lucy Raymond (flr24 @ cam.ac.uk)
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon -
DNA change c.234C>T   (View in UCSC Genome Browser, Ensembl)
DNA published S78S
RNA change r.(?)
Protein p.?
Re-site -
Frequency 1/208
Origin familial, X-linked
DB-ID ATRX_00125
Variant remarks found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators

1 entry in ATRX

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA published Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
Origin Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
-?/? Parent #1 - 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