Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.141G>C
p.Gln47His (Legacy AA No. 29)
Variant Type:
Point
Domain:
Apple 1
Codon Change:
G>C
Variant Effect:
Missense
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
17
Allele Number *:
251470
Allele Frequency *:
0.000068