Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4589A>C
p.Glu1530Ala (Legacy AA No. 1502)
Variant Type:
Point
Domain:
d5a3
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4589A>C
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
531
Allele Number *:
282418
Allele Frequency *:
0.00188
References and Comments:
NCBI Clinvar Variation ID: 787578NA