Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.996A>C
p.Lys332Asn (Legacy AA No. 304)
Variant Type:
Point
Domain:
NA
Location:
Exon 6
Variant Effect:
Missense
Codon Change:
996A>C
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
89
Allele Number *:
282764
Allele Frequency *:
0.000315
References and Comments:
NCBI Clinvar Variation ID: 569550NA