Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3442T>C
p.Ser1148Pro (Legacy AA No. 1120)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
3442T>C
No. of Patients Reported: 
3
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
22
Allele Number *: 
282600
Allele Frequency *: 
0.000078
References and Comments:
NCBI Clinvar Variation ID: 293607NA