The c.-14C>T variant almost always results in type V OI. No more patients with this variant will be added to the database unless the resulting OI type is other than type V.
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The protein-level variant desciption for the c.-14C>T variant is provisional until ratified by HGVS.
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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 , Hum.Mut. 15:7-12); for a summary see Nomenclature.
Genomic Reference Sequence.
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. IFITM5 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided.