LOVD - Variant listings for PLP1

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Exon Hide Exon column Descending
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DNA change   Descending
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RNA change Hide RNA change 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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Segr. Hide Segr. column Descending
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Reference Hide Reference column Descending
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- c.459G>A p.V153V r.(?) p.= PLP1_00001 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Tarpey 2009 DNA - - -
- c.609T>C p.D203D r.(?) p.= PLP1_00002 recurrent, found 61 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - Tarpey 2009 DNA - - -
4i c.454-322G>A r.[349_453del, =] p.[Val117_Lys151del, =] - PLP1_00003 only 0.06-0.09 normally spliced RNA in skin fibroblasts (NOTE: functional protein is expressed in brain) germline (inherited) yes Taube 2014 DNA SEQ - -
4i c.454-314T>A - r.spl? p.? PLP1_00004 no RNA available germline (inherited) yes Taube 2014 DNA SEQ - -
4i c.454-314T>G - r.spl? p.? PLP1_00005 no RNA available germline (inherited) yes Taube 2014 DNA SEQ - -
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Legend: [ PLP1 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: number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9 DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Var_pub_as: What the variant was reported as. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. PLP1 DB-ID: BD-ID = database IDentifier Variant remarks: Variant remarks Genetic origin: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences Segr.: indicates whether the variant segregates with the disease (yes), does not segregate with the disease (no) or segregation is unknown (?) Reference: Reference = reference to publication describing variant Template: Detection_Template Technique: Technique Frequency: Frequency if variant is non pathogenic. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site.