LOVD - Variant listings for ATRX

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Patient data (#0001802)
Disease ATMDS
Reference Nelson, et al., 2005
Template DNA
Technique SEQ
Remarks cDNA affect insertion 43bp
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon 4
DNA change NM_000489.3:c.242+2T>C   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change -
Protein NP_000480.2:p.R81fs
Re-site -
Frequency -
Origin -
DB-ID ATRX_00087
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 4 NM_000489.3:c.242+2T>C - - NP_000480.2:p.R81fs - - - ATRX_00087 -