Search Results: 1 unique variant retrieved.
c.1636C>T
p.(Arg546Trp) (Legacy AA No.527)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGG > TGG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
87
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
(presumed 1-st) |
(2-st/Chr) |
(1-st/2-st) |
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