Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.4189C>T
p.Leu1397Phe (Legacy AA No. 1369)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
4189C>T
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
25684
Allele Number *:
282308
Allele Frequency *:
0.090979
References and Comments:
NCBI Clinvar Variation ID: 293600NA