Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.281T>C
p.Val94Ala (Legacy AA No. 66)
Variant Type:
Point
Domain:
d5A1
Location:
Exon 3
Variant Effect:
Missense
Codon Change:
281T>C
No. of Patients Reported:
1
Phenotype:
NA
Association:
Unknown
Allele Count *:
2
Allele Number *:
250870
Allele Frequency *:
0.000008
References and Comments:
NCBI Clinvar Variation ID: 874767NA