Search Results: 2 unique variants retrieved
c.5554A>G
p.(Lys1852Glu) (Legacy AA No.1833)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.5556A>T
p.(Lys1852Asn) (Legacy AA No.1833)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAA > AAT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show