Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1624A>G
p.Ile542Val (Legacy AA No. 514)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 10
Variant Effect:
Missense
Codon Change:
1624A>G
No. of Patients Reported:
2
Phenotype:
NA
Association:
Unknown
Allele Count *:
9
Allele Number *:
282632
Allele Frequency *:
0.000032
References and Comments:
NCBI Clinvar Variation ID: 293626NA