Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1181T>C
p.Val394Ala (Legacy AA No. 366)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 8
Variant Effect:
Missense
Codon Change:
1181T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
31
Allele Number *:
282670
Allele Frequency *:
0.00011
References and Comments:
NCBI Clinvar Variation ID: 1084788NA