Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3446C>T
p.Ser1149Phe (Legacy AA No. 1121)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3446C>T
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
45
Allele Number *:
282612
Allele Frequency *:
0.000159
References and Comments:
NCBI Clinvar Variation ID: 1091728NA