Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6298C>T
p.Arg2100Cys (Legacy AA No. 2072)
Variant Type: 
Point
Domain: 
d5C2
Location: 
Exon 23
Variant Effect: 
Missense
Codon Change: 
6298C>T
No. of Patients Reported: 
1
Phenotype: 
NA
Association: 
Unknown
Allele Count *: 
10
Allele Number *: 
251130
Allele Frequency *: 
0.00004
References and Comments:
NCBI Clinvar Variation ID: 875604NA