Data Display Options:
Search Results: 1 unique variant retrieved.
c.6982C>G
p.(His2328Asp) (Legacy AA No.2309)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 26
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 26