Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.44C>A
p.Ala15Asp (Legacy AA No. -26)
Variant Type:
Point
Domain:
Pre-pro leader
Location:
Exon 1
Variant Effect:
Missense
Codon Change:
C>A
No. of Patients Reported:
4
Phenotype:
U
Allele Count *:
1
Allele Number *:
247586
Allele Frequency *:
0.000004
References and Comments:
Mota et al 2010; Borhany et al 2018Variant likely damages protein function.