LOVD - Variant listings for PLP1

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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 - - - MRX - - Raymond:Cambridge ? ? unknown - - - - 1
-?/? - 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 - - - MRX - - Raymond:Cambridge ? ? unknown - - - - 61
+/? 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 - - Pelizaeus-Merzbacher Disease mild classical PMD 2-generation family, 3 affected males, 3 unaffected heterozygous carrier females Taube 2014, United States:Wilmington United States - familial, X-linked recessive no - - - 3
+/? 4i c.454-314T>A - r.spl? p.? PLP1_00004 no RNA available germline (inherited) yes Taube 2014 DNA SEQ - - Pelizaeus-Merzbacher Disease mild classical PMD phenotype 4-generation family, 2 affecteds, 2 unaffected heterozygous female carriers Taube 2014, United States:Wilmington Philippines - familial, X-linked recessive - - - - 2
+/? 4i c.454-314T>G - r.spl? p.? PLP1_00005 no RNA available germline (inherited) yes Taube 2014 DNA SEQ - - Pelizaeus-Merzbacher Disease mild classical PMD 5-generation family, 7 affected males Taube 2014, United States:Wilmington Czech Republic - familial, X-linked recessive no - - - 7
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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Phenotype additional: Phenotype, additional features Remarks: Remarks Reference: Reference describing the phenotype Geographic origin: Geographic origin of patient Ethnic origin: Ethnic origin of patient Inheritance: indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial) or isolated (sporadic) Consang.: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown) Age_exam: age at which the individual was examined; 4y8m = 4 years and 8 months Age_onset: age at which the disease became evident; 4y8m = 4 years and 8 months MR: MR # Reported: Number of times this case has been reported