LOVD - Variant listings for DSE

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+/+ 04 c.799A>G
    + c.799A>G
- Substitution Missense p.(Arg267Gly) - - - DSE_00002 AN_001992 Musculocontractural EDS Syx et al., 2015, Belgium:Ghent DNA PCR, SEQ This patient has an affected sister (AN_001993) who is homozygous for the same variant. -
+/+ 04 c.803C>T
    + c.803C>T
- Substitution Missense p.(Ser268Leu) - - - DSE_00001 Musculocontractural EDS Müller et al., 2013 DNA PCR, SEQ - Indian
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Legend: [ DSE 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. DSE 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