Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1391C>T
p.Thr464Ile (Legacy AA No. 436)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 9
Variant Effect:
Missense
Codon Change:
1391C>T
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
108
Allele Number *:
282730
Allele Frequency *:
0.000382
References and Comments:
NCBI Clinvar Variation ID: 293629NA