Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6554A>G
p.Lys2185Arg (Legacy AA No. 2157)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 25
Variant Effect:
Missense
Codon Change:
6554A>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
216
Allele Number *:
282058
Allele Frequency *:
0.000766
References and Comments:
NCBI Clinvar Variation ID: 716051NA