Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.2257C>A
p.Leu753Ile (Legacy AA No. 725)
Variant Type:
Point
Domain:
d5B
Location:
Exon 13
Variant Effect:
Missense
Codon Change:
2257C>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
5
Allele Number *:
251154
Allele Frequency *:
0.00002
References and Comments:
NCBI Clinvar Variation ID: 1312444NA