Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.751C>T
p.Gln251* (Legacy AA No. 233)
Variant Type:
Point
Domain:
Apple 3
Codon Change:
C>T
Variant Effect:
Nonsense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
1
Allele Number *:
251356
Allele Frequency *:
0.000004