Search Results: 1 unique variants retrieved.
c.491C>T
p.(Ala164Val) (118)
Variant Type:
Point
Domain:
EGF2
cDNA number:
491
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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