LOVD - Variant listings for CREB3L1

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Patient data (#0003551)
Patient ID
Disease OI
Reference Lindahl et al., 2018
Template DNA
Technique CNGP, SEQ
Remarks The affected individual is described as having "severe OI" with blue sclerae and tooth agenesis. Two unaffected siblings were carriers of the variant and two were homozygous WT.
Ethnic origin Somali

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 11
DNA change c.1284C>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Nonsense
Protein p.(Tyr428*)
RNA change -
Re-site -
DB-ID CREB3L1_00003

2 entries in CREB3L1

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) 11 c.1284C>A - Substitution Nonsense p.(Tyr428*) - - CREB3L1_00003
+/+ Maternal (confirmed) 11 c.1284C>A - Substitution Nonsense p.(Tyr428*) - - CREB3L1_00003