Search Results: 1 unique variant retrieved.
c.5345T>G
p.(Ile1782Arg) (Legacy AA No.1763)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATA > AGA
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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