Search Results: 1 unique variant retrieved.
c.6982C>G
p.(His2328Asp) (Legacy AA No.2309)
Variant Type:
Point
Domain:
C2
Sequence Context:
CAC > GAC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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