Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3776C>A
p.Ser1259Tyr (Legacy AA No. 1231)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3776C>A
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
193
Allele Number *:
282726
Allele Frequency *:
0.000683
References and Comments:
NCBI Clinvar Variation ID: 714099NA