Search Results: 2 unique variants retrieved
c.265A>T
p.(Lys89*) (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 :
Show
c.265A>G
p.(Lys89Glu) (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