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Search Results: 2 unique variants retrieved
p.Cys121Phe (Legacy AA No. 61)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGC > TTC
Variant Effect:
Missense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Cys121* (Legacy AA No. 61)
Variant Type:
Point
Domain:
EGF1
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon (5)
No of bases:
1
No. of patients reported:
1
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