Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5392G>A
p.Glu1798Lys (Legacy AA No. 1770)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Missense
Codon Change:
5392G>A
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
NA
Allele Number *:
NA
Allele Frequency *:
NA
References and Comments:
NCBI Clinvar Variation ID: 56160NA