Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.6589A>G
p.Ile2197Val (Legacy AA No. 2169)
Variant Type:
Point
Domain:
d5C2
Location:
Exon 25
Variant Effect:
Missense
Codon Change:
6589A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
20
Allele Number *:
282322
Allele Frequency *:
0.000071
References and Comments:
NCBI Clinvar Variation ID: 293572NA