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LOVD - Variant listings for TMEM38B

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6 entries
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Exon Hide Exon column Descending

DNA change   Descending

dbSNP Hide dbSNP column Descending

Type Hide Type column Descending

Mutation effect Hide Mutation effect column Descending

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RNA change Hide RNA change column Descending

Re-site Hide Re-site column Descending

DB-ID Hide DB-ID column Descending
01 GRCh38 chr9:g.105,682,311_105,716,202del
  (Reported 3 times)
- Deletion Exon deletion - - - TMEM38B_00004
01 c.63dupT - Duplication Nonsense p.(Asp22*) - - TMEM38B_00005
03i c.455-7T>G
  (Reported 2 times)
- Substitution Cryptic splice site p.Arg151_Gly152insValLeu - - TMEM38B_00007
03i c.455-?_542+?del
  (Reported 6 times)
- Deletion Exon deletion p.(Gly152Alafs*5) - - TMEM38B_00001
03i g.32476_53457delinsATTAAGGTATA
  (Reported 10 times)
- Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003
04 c.507G>A
  (Reported 6 times)
- Substitution Nonsense p.(Trp169*) - - TMEM38B_00006
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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.
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.