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Search Results: 2 unique variants retrieved
p.Val54Argfs*53 (Legacy AA No. -6)
Variant Type:
Duplication
Domain:
Propeptide
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (3)
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 (Duplication | Frameshift) of the variant at Exon 3
Patient Information : Show
p.Val54Ile (Legacy AA No. -6)
Variant Type:
Point
Domain:
Propeptide
Sequence Context:
ATC > GTC
Variant Effect:
Missense
Location:
Exon (3)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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