Search Results: 1 unique variant retrieved.
c.575T>C
p.(Ile192Thr) (Legacy AA No.173)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > ACT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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