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 (#0002613)
Patient ID
Disease OI
Reference Rubinato et al., 2014
Template DNA
Technique PCR, SEQ
Remarks 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.
Ethnic origin Albanian

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 01
DNA change GRCh38 chr9:g.105,682,311_105,716,202del
dbSNP -
Type Deletion
Mutation effect Exon deletion
Protein -
RNA change -
Re-site -
DB-ID TMEM38B_00004

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
+/+ Maternal (confirmed) 01 GRCh38 chr9:g.105,682,311_105,716,202del - Deletion Exon deletion - - - TMEM38B_00004
+/+ Paternal (confirmed) 01 GRCh38 chr9:g.105,682,311_105,716,202del - Deletion Exon deletion - - - TMEM38B_00004