Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
PMID: 30334364
Variant NM_000280.5:c.1123C>A (p.Pro375Thr)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
PMID: 30334364
Variant NM_000280.5:c.1123C>A (p.Pro375Thr)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
PMID: 18776953
Gene: PAX6
Variant c.-129+9G>A
Disease: Ocular dysgenesis
MonDO: MONDO:0700246
InheritancePattern: AD
Molecular analysis of the PAX6 gene in Mexican patients with congenital aniridia: report of four novel mutations
PMID: 18776953
Gene: PAX6
Variant c.-129+9G>A
Disease: Ocular dysgenesis
MonDO: MONDO:0700246
InheritancePattern: AD
A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
PMID: 19607881
Variant NM_001368894.2:c.136C>G(p.Leu46Val)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient
PMID: 19607881
Variant NM_001368894.2:c.136C>G(p.Leu46Val)
Gene: PAX6
Disease: Ocular dysgenesis
InheritancePattern: AD
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
PMID:
Gene: PAX6
Variant NM_000280.5:c.333C>A(p.Val111=)
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.
A novel deletion (IVS11+3del4) identified in the human PAX6 gene in a patient with aniridia
PMID:
Gene: PAX6
Variant NM_000280.5:c.333C>A(p.Val111=)
Disease: Ocular dysgenesis
InheritancePattern: AD
Notes In Table 1. and Figure 3 there are nice illustrations of the consequences of this variant leading to a 27bp truncation in exon 6, in frame, which causes an AA deletion p.Cys112_Val120del version of PAX6. No patient phenotype data is available.