Search Results: 2 unique variants retrieved
c.292G>A
p.(Glu98Lys) (Legacy AA No.79)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.293A>T
p.(Glu98Val) (Legacy AA No.79)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > GTG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show