Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1640T>C
p.Val547Ala (Legacy AA No. 519)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 11
Variant Effect:
Missense
Codon Change:
1640T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
4
Allele Number *:
251330
Allele Frequency *:
0.000016
References and Comments:
NCBI Clinvar Variation ID: 391573NA