Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.628C>A
p.Gln210Lys (Legacy AA No. 182)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 5
Variant Effect:
Missense
Codon Change:
628C>A
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
64
Allele Number *:
282576
Allele Frequency *:
0.000226
References and Comments:
NCBI Clinvar Variation ID: 875606NA