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LOVD - Variant listings for TMEM38B

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+/+ 01 GRCh38 chr9:g.105,682,311_105,716,202del
    + GRCh38 chr9:g.105,682,311_105,716,202del
- Deletion Exon deletion - - - TMEM38B_00004 OI Rubinato et al., 2014 DNA PCR, SEQ The parents are possibly related. The 33,892 bp deletion spans exons 1 and 2. It was originally reported as chr9:108444592_108478483del, probably for an earlier genome build. Albanian
+/+ 01 GRCh38 chr9:g.105,682,311_105,716,202del
    + c.63dupT
- Deletion Exon deletion - - - TMEM38B_00004 Proband 2 OI XIV Cabral et al., 2016 DNA PCR, SEQ - European ancestry
+/+ 01 c.63dupT
    + GRCh38 chr9:g.105,682,311_105,716,202del
- Duplication Nonsense p.(Asp22*) - - TMEM38B_00005 Proband 2 OI XIV Cabral et al., 2016 DNA PCR, SEQ - European ancestry
+/+ 03i c.455-7T>G
    + c.455-7T>G
- Substitution Cryptic splice site p.Arg151_Gly152insValLeu - - TMEM38B_00007 Family 1 OI Lv et al., 2016 DNA, RNA PCR, RT-PCR, SEQ The base substitution in intron 3 shifts the 3ยด splice site by six bases and results in a two-amino-acid insertion. Chinese Han
+/+ 03i c.455-?_542+?del
    + c.455-?_542+?del
- Deletion Exon deletion p.(Gly152Alafs*5) - - TMEM38B_00001 OI-F3 IV:2 OI Shaheen et al., 2012 DNA, RNA PCR, RT-PCR, SEQ - Saudi Arabian
+/+ 03i c.455-?_542+?del
    + c.455-?_542+?del
- Deletion Exon deletion p.(Gly152Alafs*5) - - TMEM38B_00001 OI-F11 IV:3 OI Shaheen et al., 2012 DNA, RNA PCR, RT-PCR, SEQ - Saudi Arabian
+/+ 03i c.455-?_542+?del
    + c.455-?_542+?del
- Deletion Exon deletion p.(Gly152Alafs*5) - - TMEM38B_00001 OI-F13 IV:6 OI Shaheen et al., 2012 DNA, RNA PCR, RT-PCR, SEQ - Saudi Arabian
+/+ 03i g.32476_53457delinsATTAAGGTATA
    + g.32476_53457delinsATTAAGGTATA
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003 P3-IV:1 OI Volodarsky et al., 2013, Israel:Beer Sheva DNA, RNA PCR, RT-PCR, SEQ - Israeli Bedouin
+/+ 03i g.32476_53457delinsATTAAGGTATA
    + g.32476_53457delinsATTAAGGTATA
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003 P1-II:1 OI Volodarsky et al., 2013, Israel:Beer Sheva DNA, RNA PCR, RT-PCR, SEQ - Israeli Bedouin
+/+ 03i g.32476_53457delinsATTAAGGTATA
    + g.32476_53457delinsATTAAGGTATA
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003 P2-IV:1 OI Volodarsky et al., 2013, Israel:Beer Sheva DNA, RNA PCR, RT-PCR, SEQ - Israeli Bedouin
+/+ 03i g.32476_53457delinsATTAAGGTATA
    + g.32476_53457delinsATTAAGGTATA
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003 Proband 1 OI XIV Cabral et al., 2016 DNA PCR, SEQ The parents of the proband are consanguineous. Saudi Arabian
+/+ 03i g.32476_53457delinsATTAAGGTATA
    + g.32476_53457delinsATTAAGGTATA
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003 No. 1 OI III Caparros-Martin et al., 2016 DNA PCR, SEQ - Egyptian
+/+ 04 c.507G>A
    + c.507G>A
- Substitution Nonsense p.(Trp169*) - - TMEM38B_00006 Proband 3 OI XIV Cabral et al., 2016 DNA PCR, SEQ The parents of the proband are consanguineous. Pakistani
+/+ 04 c.507G>A
    + c.507G>A
- Substitution Nonsense p.(Trp169*) - - TMEM38B_00006 Family 2 OI Lv et al., 2016 DNA PCR, SEQ The proband also has an affected younger brother. Chinese Han
+/+ 04 c.507G>A
    + c.507G>A
- Substitution Nonsense p.(Trp169*) - - TMEM38B_00006 No. 44 OI Caparros-Martin et al., 2016 DNA PCR - Turkish
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Legend: [ TMEM38B 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. TMEM38B 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