Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.5308G>A
p.Val1770Ile (Legacy AA No. 1742)
Variant Type:
Point
Domain:
d5A3
Location:
Exon 16
Variant Effect:
Missense
Codon Change:
5308G>A
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
1
Allele Number *:
251012
Allele Frequency *:
0.000004
References and Comments:
NCBI Clinvar Variation ID: 293587NA