LOVD - Variant listings for AIRE

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DB-ID Hide DB-ID column Descending
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dbSNP Hide dbSNP column Descending
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Reference Hide Reference column Descending
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DNA_chr21 Hide DNA_chr21 column Descending
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Exon Hide Exon column Descending
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DNA_NG_ Hide DNA_NG_ column Descending
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AB006684.1 Hide AB006684.1 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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Variant remarks Hide Variant remarks column Descending
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Genetic origin Hide Genetic origin column Descending
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Frequency Hide Frequency column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Restriction-site Hide Restriction-site column Descending
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AIRE_00060 - - - 1_14 - -
  (Reported 299 times)
- r.? p.? unknown variant 2nd chromosome - - DNA SEQ -
AIRE_00466 - Finnish-German APECED Consortium 1997 g.45711065_45711077del 08 g.10303_10315del g.9882_9894del c.967_979del
  (Reported 3 times)
- r.? p.(Leu323Serfs*51) - unknown - DNA SEQ -
1 - 2

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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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
AIRE DB-ID: the ID starts with the HGNC gene symbol followed by an underscore (_) and ends with a five digit ID code dbSNP: identifier in dbSNP (format {dbSNPxxxx} for rsxxxx) 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. DNA_chr21: variant description based on reference sequence AB006684.1 Exon: Exon/Intron numbering. DNA_NG_: description of variant at DNA level, based on a NG_ genomic reference sequence, following HGVS recommendations; e.g. g.123C>T AB006684.1: variant description based on reference sequence AB006684.1 DNA change: DNA change Var_pub_as: Variant published as RNA change: RNA change Protein: description of variant at protein level, following HGVS recommendations; e.g. p.(Arg345Pro) = (RNA not analysed, change predicted from DNA), p.Arg345Pro (protein change predicted from RNA), p.0 (no protein produced), p.? (unknown effect) Variant remarks: Variant remarks Genetic origin: origin of variant, unknown, germline (i.e. inherited), somatic, de novo or from parental disomy (maternal or paternal) Frequency: frequency in which variant was found; e.g 5/76 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested). NOTE: preferred format is 5/76. Template: Template Technique: Technique Restriction-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.