Search Results: 1 unique variant retrieved.
c.5312T>C
p.(Leu1771Pro) (Legacy AA No.1752)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTA > CCA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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