Search Results: 2 unique variants retrieved
c.265A>T
p.(Lys89*) Legacy AA 43
Variant Type:
Point
Domain:
Gla
cDNA number:
265
Variant Effect:
Nonsense
Location:
Exon(3)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 3.
Individual Case Information :
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c.265A>G
p.(Lys89Glu) Legacy AA 43
Variant Type:
Point
Domain:
Gla
cDNA number:
265
Variant Effect:
Missense
Location:
Exon(3)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show