Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5460G>A
p.Met1820Ile (Legacy AA No. 1792)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 17
Variant Effect:
Missense
Codon Change:
5460G>A
No. of Patients Reported:
3
Phenotype:
NA
Association:
Unknown
Allele Count *:
733
Allele Number *:
282336
Allele Frequency *:
0.002596
References and Comments:
NCBI Clinvar Variation ID: 293583NA