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LOVD - Variant listings for FAM46A

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+/+ 02 - c.380A>G
    + c.380A>G
- Substitution Missense p.(His127Arg) - - FAM46A_00002 Patient 2 OI Doyard et al., 2018 DNA PCR, SEQ There are two affected individuals in the same family, each homozygous for the variant. French
+/+ 03 - c.612_613dup
    + c.612_613dup
- Duplication Frameshift p.(Ser205Tyrfs*13) - - FAM46A_00001 Patient 1 OI Doyard et al., 2018 DNA PCR, SEQ, WES - Italian
+/+ 03 - c.692A>G
    + c.692A>G
- Substitution Missense p.(Asp231Gly) - - FAM46A_00003 Patient 4 OI III Doyard et al., 2018 DNA PCR, SEQ - Egyptian
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Legend: [ FAM46A 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. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
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. ClinVar: ClinVar 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. FAM46A 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