LOVD - Variant listings for FKBP14

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+/+ 01 c.42_60del
    + c.362dupC
- Deletion Nonsense p.Thr15* - - - FKBP14_00002 P6 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Germany
+/+ 01 c.143T>A
    + c.143T>A
- Substitution Missense p.(Met48Lys) - - - FKBP14_00006 P2/FII EDS FKBP22 Giunta et al.,2018, Switzerland:Zurich DNA SEQ - Iranian
+/+? 01i c.197+5_197+8delGTAA
    + c.197+5_197+8delGTAA
- Deletion Exon skip - - - - FKBP14_00004 07DG0027 EDS FKBP22 Aldeeri et al., 2014 DNA SEQ - -
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P1 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SNP Array The proband (P1) is great nephew of individual P2 who is also homozygous for the same variant. Austria
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P3 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Italy
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P4 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - France
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P5 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Turkey
+/+ 03 c.362dupC
    + c.42_60del
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 P6 EDS FKBP22 Baumann et al., 2012 DNA PCR, SEQ, SeqArray - Germany
+/+ 03 c.362dupC
    + c.573_575del
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Dordoni et al. 2016 DNA PCR, SEQ Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. Italy
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Murray et al., 2014 DNA PCR, SEQ - German & English American
+/+ 03 c.362dupC
    + c.362dupC
- Duplication Frameshift p.(Glu122Argfs*7) - - - FKBP14_00001 EDS FKBP22 Bursztejn et al.,2016 DNA Unknown - France
+/+? 04 c.573_575del
    + c.362dupC
- Deletion In-frame deletion p.Glu191del - - - FKBP14_00003 EDS FKBP22 Dordoni et al. 2016 DNA PCR, SEQ Typographical error in 'Molecular Characterization' section states the novel mutation to be c.573_576del, not the correct c.573_575 which is stated elsewhere and confirmed by the data. Italy
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Legend: [ FKBP14 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: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. dbSNP: dbSNP Type: Type of variant at DNA level. Mutation Effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Re-site: Variant creates (+) or destroys (-) a restriction enzyme recognition site. Frequency: Frequency if variant is non pathogenic. FKBP14 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Ethnic origin: Ethnic origin of patient