Search Results: 1 unique variant retrieved.
c.6172G>C
p.(Ala2058Pro) (Legacy AA No.2039)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 20
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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