Search Results: 2 unique variants retrieved
c.5353G>A
p.(Glu1785Lys) (Legacy AA No.1766)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.5354A>C
p.(Glu1785Ala) (Legacy AA No.1766)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > GCA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show