Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5144G>A
p.Arg1715Gln (Legacy AA No. 1687)
Variant Type: 
Point
Domain: 
d5A3
Location: 
Exon 15
Variant Effect: 
Missense
Codon Change: 
5144G>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
1
Allele Number *: 
250774
Allele Frequency *: 
0.000004
References and Comments:
NCBI Clinvar Variation ID: 874864NA