Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.454G>A
p.Ala152Thr (Legacy AA No. 112)
Variant Type:
Point
Domain:
EGF-2
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
G>A
No. of Patients Reported:
0
Phenotype:
None
Allele Count *:
6
Allele Number *:
282488
Allele Frequency *:
0.000021
References and Comments:
Unpublished DataPolymorphism.