Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3311C>A
p.Ser1104Tyr (Legacy AA No. 1076)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
3311C>A
No. of Patients Reported: 
2
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
19
Allele Number *: 
251138
Allele Frequency *: 
0.000076
References and Comments:
NCBI Clinvar Variation ID: 293610NA