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.
LOVD - Variant listings for IFITM5

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+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Proband 1 OI V Semler et al., 2012 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Proband 2 OI V Semler et al., 2012 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 1 V:1 OI V Cho et al., 2012 DNA PCR, SEQ This patient was subsequently presented again as Patient 1 by Kim et al., 2013 and previously as case 12 by Lee et al. 2006. Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 2 III:1 OI V Cho et al., 2012 DNA PCR, SEQ This patient was subsequently presented again as Patient 4 by Kim et al., 2013 and previously as case 3 by Lee et al. 2006. Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 3 III:1 OI V Cho et al., 2012 DNA PCR, SEQ This patient was subsequently presented again as Patient 3 by Kim et al., 2013. Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 4 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 5 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 6 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 7 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
?/? 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 8 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Family 9 II:1 OI V Cho et al., 2012 DNA PCR, SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 1 OI V Balasubramanian et al., 2013 DNA PCR, SEQ The patient's daughter (Patient 2) also harbours the same variant. European
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 3 OI V Balasubramanian et al., 2013 DNA PCR, SEQ - European
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 4 OI V Balasubramanian et al., 2013 DNA PCR, SEQ - European
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 OI III/IV Grover et al., 2013 DNA PCR, SEQ This patient is the first described having the recurrent OI type V sequence variant but with a different OI type. Hispanic
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 1 OI V Takagi et al., 2013 DNA SEQ - Japanese
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 2 OI V Takagi et al., 2013 DNA SEQ - Japanese
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 5 OI V Kim et al., 2013 DNA SEQ Patient 9 is related to this patient and also harbours the same variant. Japanese
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 10 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 11 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 12 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 13 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 14 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 15 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Patient 16 OI V Kim et al., 2013 DNA SEQ - Korean
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 F1-II1 OI V Zhang et al., 2013 DNA PCR, SEQ The proband's mother also has OI V. Han
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 F2 OI V Zhang et al., 2013 DNA PCR - Han
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 F3 OI V Zhang et al., 2013 DNA PCR, SEQ - Han
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 F4 OI V Zhang et al., 2013 DNA PCR, SEQ - Han
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 AN_002124 OI V Guillén-Navarro et al., 2014, Spain:Madrid DNA SEQ This is Patient 2 as described in the paper and the sequence variant arose de novo. Lithuanian
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 Individual T10 - Rauch et al., 2014 DNA mPCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 73.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 88.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 91.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 150.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 176.3 OI V Lazarus et al., 2014 DNA, RNA PCR, RT-PCR, SEQ Presence of mRNA carrying the variant was shown by RT-PCR and sequencing of RNA from bone. -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 181.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 182.3 OI V Lazarus et al., 2014 DNA PCR, SEQ - -
+/+ 01 c.-14C>T - Substitution New upstream start codon p.(Met1ext-5) - - IFITM5_00001 185.3 OI V Lazarus et al., 2014 DNA PCR, SEQ The patient's son (individual 185.4) also harbours the same variant and has OI type V. -
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 AN_002124 OI III/IV Guillén-Navarro et al., 2014, Spain:Madrid DNA SEQ This is Patient 1 as described in the paper and the sequence variant arose de novo. Spanish
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 OI III Hoyer-Kuhn et al., 2014 DNA PCR, SEQ The OI phenotype is described by the authors as "severe". -
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 OI VI Farber et al., 2014 DNA EX SEQ, PCR, SEQ The variant in this patient arose do novo. -
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 OI He et al., 2017 DNA PCR, SEQ, WES The pregnancy was terminated at 20 weeks due to poor prognosis. Chinese
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 Case 9 OI Chandler et al., 2018 DNA CNEP, PCR, SEQ - -
+/+ 1 c.119C>T - Substitution Missense p.(Ser40Leu) - - IFITM5_00002 OI Rodriguez Celin et al., 2018 DNA CNGP, SEQ The proband is described as having "severe OI". Argentinian
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The protein-level variant desciption for the c.-14C>T variant is provisional until ratified by HGVS.

Legend: [ IFITM5 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. IFITM5 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