Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3853C>A
p.Leu1285Ile (Legacy AA No. 1257)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3853C>A
No. of Patients Reported:
5
Phenotype:
NA
Association:
Unknown
Allele Count *:
48355
Allele Number *:
280090
Allele Frequency *:
0.172641
References and Comments:
NCBI Clinvar Variation ID: 255205NA