Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2129A>G
p.His710Arg (Legacy AA No. 682)
Variant Type:
Point
Domain:
d5a2
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2129A>G
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
285
Allele Number *:
282458
Allele Frequency *:
0.001009
References and Comments:
NCBI Clinvar Variation ID: 716055NA