LOVD - Variant listings for NUP133

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Patient data (#0001641)
Disease -
Reference Patrinos and Grosveld, 2008 dbSNP
Template DNA
Technique PCR
Remarks -
# Reported 1
Ethnic origin -
Disease Mesh ID -
Geographic origin -

Variant data
Allele Unknown
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon -
DNA change NM_018230.2:c.183-594A>T
RNA change -
Protein -
Re-site -
Frequency -
DB-ID NUP133_00001

1 entry in NUP133

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
?/? Unknown - NM_018230.2:c.183-594A>T - - - - NUP133_00001