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Search Results: 2 unique variants retrieved
???? (Legacy AA No. 38)
Variant Type:
Deletion
Domain:
Gla
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (4)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 4
Patient Information : Show
p.Trp101Cys (Legacy AA No. 41)
Variant Type:
Point
Domain:
Gla
Sequence Context:
TGC > TGG
Variant Effect:
Missense
Location:
Exon (4)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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