Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2434C>T
p.His812Tyr (Legacy AA No. 784)
Variant Type: 
Point
Domain: 
d5B
Location: 
Exon 13
Variant Effect: 
Missense
Codon Change: 
2434C>T
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
1
Allele Number *: 
251286
Allele Frequency *: 
0.000004
References and Comments:
NCBI Clinvar Variation ID: 806273NA