Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4145C>A
p.Thr1382Lys (Legacy AA No. 1354)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
4145C>A
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
42
Allele Number *: 
282520
Allele Frequency *: 
0.000149
References and Comments:
NCBI Clinvar Variation ID: 1084141NA