Search Results: 2 unique variants retrieved
Terms with a '*' next to them are explained on the Help Page .
c.428A>C
p.Asp143Ala (Legacy AA No. 125)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
A>C
Variant Effect:
Missense
No. of Patients Reported:
3
Phenotype:
U
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
Variant Comments & Reference:
Jerčić et al 2020 c.429C>T
p.Asp143= (Legacy AA No. 125)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
C>T
Variant Effect:
Silent
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
10089
Allele Number *:
282660
Allele Frequency *:
0.035693