Search Results: 2 unique variants retrieved
c.1279A>G
p.(Lys427Glu) (Legacy AA No.408)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1280A>T
p.(Lys427Ile) (Legacy AA No.408)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > ATA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show