Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.981C>A
p.Cys327* (Legacy AA No. 309)
Variant Type:
Point
Domain:
Apple 4
Codon Change:
C>A
Variant Effect:
Nonsense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251406
Allele Frequency *:
0.000004