LOVD - Variant listings for ATRX

About this overview [Show]

Patient data (#0002141)
Disease Intellectual Disability
Reference United States:Atlanta
Template DNA
Technique PCR
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -
Submitter Michael Zwick

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Unknown
Exon 36
DNA change NM_000489.4(ATRX_v001):c.7394del
DNA published -
RNA change -
Protein p.G2465Vfs*15
Re-site -
Frequency -
Origin -
DB-ID ATRX_00135
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
+?/? Maternal (confirmed) 36 NM_000489.4(ATRX_v001):c.7394del - - p.G2465Vfs*15 - - - ATRX_00135 -

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