Search Results: 2 unique variants retrieved
c.169C>T
p.(Gln57*) (11)
Variant Type:
Point
Domain:
Gla
cDNA number:
169
Variant Effect:
Nonsense
Location:
Exon(2)
CpG:
N
No. of cases reported:
3
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 2.
Individual Case Information :
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c.169C>G
p.(Gln57Glu) (11)
Variant Type:
Point
Domain:
Gla
cDNA number:
169
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show