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https://databases.lovd.nl/shared/genes/TMEM38B

LOVD - Variant listings for TMEM38B

About this overview [Show]

Patient data (#0003052)
Patient ID Family 1
Disease OI
Reference Lv et al., 2016
Template DNA, RNA
Technique PCR, RT-PCR, SEQ
Remarks The base substitution in intron 3 shifts the 3ยด splice site by six bases and results in a two-amino-acid insertion.
Ethnic origin Chinese Han

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03i
DNA change c.455-7T>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Cryptic splice site
Protein p.Arg151_Gly152insValLeu
RNA change -
Re-site -
DB-ID TMEM38B_00007

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) 03i c.455-7T>G - Substitution Cryptic splice site p.Arg151_Gly152insValLeu - - TMEM38B_00007
+/+ Paternal (confirmed) 03i c.455-7T>G - Substitution Cryptic splice site p.Arg151_Gly152insValLeu - - TMEM38B_00007