LOVD - Variant listings for B3GALT6

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+/+? 01 c.16C>T
    + c.415_423del
- Substitution Missense p.Arg6Trp - - - B3GALT6_00007 P12 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Brazil
+/+ 01 c.323_344del
    + c.619G>C
- Deletion Nonsense p.Ala108Glyfs∗163 - - - B3GALT6_00002 P3 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ Has a younger sister, P4, of the same genotype Iran
+/+ 01 c.353delA
    + c.925T>A
- Deletion Nonsense p.Asp118Alafs*160 - - - B3GALT6_00004 P9 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Italy
+/+? 01 c.415_423del
    + c.16C>T
- Deletion In-frame deletion p.Met139Ala141del - - - B3GALT6_00008 P12 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Brazil
+/+ 01 c.588delG
    + c.925T>A
- Deletion Nonsense p.Arg197Alafs∗81 - - - B3GALT6_00006 P10 Progeroid EDS Nakajima et al., 2013 DNA SEQ P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) Italian/Canadian
+/+ 01 c.619G>C
    + c.619G>C
- Substitution Missense p.Asp207His - - - B3GALT6_00001 P1 EDS B3GALT6 Malfait et al., 2013 DNA PCR, SEQ, SeqArray P1 has a maternal cousin, P2, of the same genotype Iran
+/+ 01 c.619G>C
    + c.323_344del
- Substitution Missense p.Asp207His - - - B3GALT6_00001 P3 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ Has a younger sister, P4, of the same genotype Iran
+/+ 01 c.649G>A
    + c.649G>A
- Substitution Missense p.Gly217Ser - - - B3GALT6_00003 P5 EDS B3GALT6 Malfait et al., 2013 DNA RT-PCR, SEQ - Iran
+/+? 01 c.925T>A
    + c.353delA
- Substitution Missense p.Ser309Thr - - - B3GALT6_00005 P9 Progeroid EDS Nakajima et al., 2013 DNA SEQ - Italy
+/+? 01 c.925T>A
    + c.588delG
- Substitution Missense p.Ser309Thr - - - B3GALT6_00005 P10 Progeroid EDS Nakajima et al., 2013 DNA SEQ P10, of family F9, has a younger female relative of the same genotype (relation not explicitly stated, probably a sister) Italian/Canadian
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Legend: [ B3GALT6 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. B3GALT6 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