LOVD - Variant listings for WNT1

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Patient data (#0003012)
Patient ID LR13-327
Disease OI
Reference Aldinger et al., 2015
Template DNA
Technique SEQ
Remarks -
Ethnic origin Chinese

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 04
DNA change c.677C>T   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation effect Missense
Protein p.(Ser226Leu)
RNA change -
Re-site -
DB-ID WNT1_00018

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
+/+ Unknown 02 c.184C>T - Substitution Nonsense p.(Gln62*) - - WNT1_00017
+/+ Unknown 04 c.677C>T - Substitution Missense p.(Ser226Leu) - - WNT1_00018