Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3402C>A
p.Asp1134Glu (Legacy AA No. 1106)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
3402C>A
No. of Patients Reported: 
3
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
97
Allele Number *: 
251180
Allele Frequency *: 
0.000386
References and Comments:
NCBI Clinvar Variation ID: 293609NA