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 (#0003051)
Patient ID Proband 3
Disease OI XIV
Reference Cabral et al., 2016
Template DNA
Technique PCR, SEQ
Remarks The parents of the proband are consanguineous.
Ethnic origin Pakistani

Variant data
Allele Paternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
DNA change c.507G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Nonsense
Protein p.(Trp169*)
RNA change -
Re-site -
DB-ID TMEM38B_00006

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 (inferred) 04 c.507G>A - Substitution Nonsense p.(Trp169*) - - TMEM38B_00006
+/+ Paternal (inferred) 04 c.507G>A - Substitution Nonsense p.(Trp169*) - - TMEM38B_00006