Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.116C>T
p.Thr39Met (Legacy AA No. -2)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 2
Variant Effect:
Missense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-