This page is now frozen. The data can now be accessed at
https://databases.lovd.nl/shared/genes/TMEM38B

LOVD - Variant listings for TMEM38B

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Patient data (#0003318)
Patient ID No. 1
Disease OI III
Reference Caparros-Martin et al., 2016
Template DNA
Technique PCR, SEQ
Remarks -
Ethnic origin Egyptian

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03i
DNA change g.32476_53457delinsATTAAGGTATA   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Insertion/Deletion
Mutation effect Exon deletion
Protein p.(Gly152Alafs*5)
RNA change r.455_542del
Re-site -
DB-ID TMEM38B_00003

2 entries in TMEM38B

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
DB-ID Descending
Ascending
+/+ Paternal (confirmed) 03i g.32476_53457delinsATTAAGGTATA - Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003
+/+ Maternal (confirmed) 03i g.32476_53457delinsATTAAGGTATA - Insertion/Deletion Exon deletion p.(Gly152Alafs*5) r.455_542del - TMEM38B_00003