Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.569T>C
p.Leu190Pro (Legacy AA No. 172)
Variant Type:
Point
Domain:
Apple 2
Codon Change:
T>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
U
Allele Count *:
3
Allele Number *:
249014
Allele Frequency *:
0.000012