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LOVD - Variant listings for DSE

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+/+? 03 c.647delG
    + c.647delG
- Deletion Frameshift p.Gly216Glufs*3 - - - DSE_00007 Patient 18 Musculocontractural EDS Ranza et al., 2017 DNA SEQ, WES The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. Moroccan
+/+ 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
+/+ 05 c.960T>A
    + c.960T>A
- Substitution Nonsense p.Tyr320* - - - DSE_00005 Patient 1 Musculocontractural EDS Lautrup et al., 2019 DNA SEQ The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents. Turkish
+?/+? 05 c.996dupT
    + c.996dupT
- Duplication Frameshift p.Val333Cysfs*4 - - - DSE_00006 Patient 2 Musculocontractural EDS Lautrup et al., 2019 DNA SEQ The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents. Indian
+?/+? 06 c.1150_1157del
    + c.1150_1157del
- Deletion Frameshift p.Pro384Trpfs*9 - - - DSE_00003 Patient 1 Musculocontractural EDS Schirwani et al., 2019 DNA SEQ, WES The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible. Portuguese
+?/+? 06 c.1763A>G
    + c.1763A>G
- Substitution Missense p.His588Arg - - - DSE_00004 Patient 2 Musculocontractural EDS Schirwani et al., 2019 DNA CEP, SEQ The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. Pakistani
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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