Data Display Options:
Search Results: 2 unique variants retrieved
c.1726G>T
p.(Glu576*) (Legacy AA No.557)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11
Individual Case Information : Show
c.1726G>A
p.(Glu576Lys) (Legacy AA No.557)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):