Search Results: 1 unique variant retrieved.
c.5977G>A
p.(Ala1993Thr) (Legacy AA No.1974)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCA > ACA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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