Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1973T>C
p.Val658Ala (Legacy AA No. 630)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 12
Variant Effect: 
Missense
Codon Change: 
1973T>C
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
2
Allele Number *: 
250980
Allele Frequency *: 
0.000008
References and Comments:
NCBI Clinvar Variation ID: 1308782NA