LOVD - Variant listings for ATRX

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Patient data (#0001751)
Disease ATR-X
Reference Fichera et al., 1998
Template DNA
Technique SEQ
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 10
DNA change NM_000489.3:c.737G>T   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change -
Protein NP_000480.2:p.R246L
Re-site -
Frequency -
Origin -
DB-ID ATRX_00036
Variant remarks -

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
?/? Unknown 10 NM_000489.3:c.737G>T - - NP_000480.2:p.R246L - - - ATRX_00036 -