Search Results: 1 unique variant retrieved.
c.1601T>G
p.(Val534Gly) (Legacy AA No.515)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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