Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1546G>T
p.Ala516Ser (Legacy AA No. 488)
Variant Type: 
Point
Domain: 
d5A2
Location: 
Exon 10
Variant Effect: 
Missense
Codon Change: 
1546G>T
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
NA
Allele Number *: 
NA
Allele Frequency *: 
NA
References and Comments:
NCBI Clinvar Variation ID: 874517NA