Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4862G>A
p.Arg1621Gln (Legacy AA No. 1593)
Variant Type: 
Point
Domain: 
d5A3
Location: 
Exon 14
Variant Effect: 
Missense
Codon Change: 
4862G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
4
Allele Number *: 
282324
Allele Frequency *: 
0.000014
References and Comments:
NCBI Clinvar Variation ID: 627078NA