Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.400C>T
p.Gln134* (Legacy AA No. 116)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
C>T
Variant Effect:
Nonsense
No. of Patients Reported:
3
Phenotype:
I
Allele Count *:
8
Allele Number *:
282680
Allele Frequency *:
0.000028