Data Export Options:
Search Results: 1 unique variant retrieved.
p.Cys195Arg (Legacy AA No. 135)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
14
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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