Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.333C>A
p.Ser111Arg (Legacy AA No. 83)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 3
Variant Effect:
Missense
Codon Change:
333C>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 626955NA