LOVD - Variant listings for WNT1

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Patient data (#0003595)
Patient ID P10
Disease OI III
Reference Lu et al., 2018
Template DNA
Technique SEQ
Remarks The proband's brother (P11) also harbours the same two variants and has the same OI type.

The paternal variant is misreported as c.774C>T in Supplemntal Figure 2.
Ethnic origin -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
DNA change c.397G>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Ala133Thr)
RNA change -
Re-site -
DB-ID WNT1_00032

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 (inferred) 03 c.397G>A - Substitution Missense p.(Ala133Thr) - - WNT1_00032
+/+ Paternal (confirmed) 04 c.774C>A - Substitution Nonsense p.(Tyr258*) - - WNT1_00033