LOVD - Variant listings for WNT1

About this overview [Show]

Patient data (#0003552)
Patient ID IV-3
Disease OI III
Reference Umair et al., 2017
Template DNA, RNA
Technique PCR, RT-PCR, SEQ, WES
Remarks The parents are consanguineous.
Ethnic origin Pakistani

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02i
DNA change c.359-3C>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Splice site
Protein -
RNA change -
Re-site -
DB-ID WNT1_00025

2 entries in WNT1

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) 02i c.359-3C>G - Substitution Splice site - - - WNT1_00025
+/+ Paternal (confirmed) 02i c.359-3C>G - Substitution Splice site - - - WNT1_00025