Data Export Options:
Search Results: 1 unique variant retrieved.
p.Cys115* (Legacy AA No. 55)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGA > TGC
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 5