Search Results: 1 unique variant retrieved.
c.5806C>T
p.(Arg1936Cys) (Legacy AA No.1917)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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