Search Results: 2 unique variants retrieved
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c.55G>A
(Legacy AA No. 1)
Variant Type:
Point
Domain:
Linker
Codon Change:
G>A
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Zhang et al 2020 c.55G>T
p.Glu19* (Legacy AA No. 1)
Variant Type:
Point
Domain:
Linker
Codon Change:
G>T
Variant Effect:
Nonsense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-