Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.3438C>G
p.His1146Gln (Legacy AA No. 1118)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
3438C>G
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
2153
Allele Number *:
282588
Allele Frequency *:
0.007619
References and Comments:
NCBI Clinvar Variation ID: 293608NA