Search Results: 1 unique variant retrieved.
c.196A>G
p.(Lys66Glu) (Legacy AA No.47)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 2
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show