LOVD - Variant listings for PAX2

Warning Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

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Exon Hide Exon column Descending
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DNA change   Descending
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Var_pub_as Hide Var_pub_as column Descending
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RNA change Hide RNA change column Descending
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Protein Hide Protein column Descending
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DB-ID Hide DB-ID column Descending
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Variant remarks Hide Variant remarks column Descending
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Variant origin Hide Variant origin column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Frequency Hide Frequency column Descending
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Re-site Hide Re-site column Descending
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4 c.453G>A - - p.(=) PAX2_00065 - ? (unknown) Bower et al., 2012 DNA SEQ - -
4 c.478G>A - - p.(Ala160Thr) PAX2_00067 - - Bower et al., 2012 DNA SEQ - -
4 c.491C>A
  (Reported 7 times)
- - p.(Thr164Asn) PAX2_00036 - familial Bower et al., 2012 DNA SEQ - -
5 c.527G>C - - p.(Ser176Thr) PAX2_00066 - - Bower et al., 2012 DNA SEQ - -
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Legend: [ PAX2 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Exon: Exon/Intron numbering. DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: Protein change PAX2 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Variant remarks: Variant remarks Variant origin: Variant origin Reference: Reference = publication describing variant submitted, incl. links to OMIM and dbSNP (when available); format {PMID[1]:[2]} (where [1] = PubMedID, [2] = e.g. den Dunnen 2007) or "den Dunnen ASHG2003 P2346". NOTE: not the reference to another report describing this variant. Template: Template Technique: Technique Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.