Data Display Options:
Search Results: 1 unique variant retrieved.
c.5522A>T
p.(His1841Leu) (Legacy AA No.1822)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Missense ) of mutation at Exon 16