LOVD - Variant listings for ATRX

About this overview [Show]

Patient data (#0001778)
Disease ATR-X
Reference Gibbons, et al., 2008
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 21
DNA change NM_000489.3:c.5237T>C   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change -
Protein NP_000480.2:p.L1746S
Re-site -
Frequency -
Origin -
DB-ID ATRX_00063
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 21 NM_000489.3:c.5237T>C - - NP_000480.2:p.L1746S - - - ATRX_00063 -