Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1106C>T
p.Ala369Val (Legacy AA No. 341)
Variant Type:
Point
Domain:
d5A2
Location:
Exon 7
Variant Effect:
Missense
Codon Change:
1106C>T
No. of Patients Reported:
4
Phenotype:
NA
Association:
Unknown
Allele Count *:
45
Allele Number *:
282842
Allele Frequency *:
0.000159
References and Comments:
NCBI Clinvar Variation ID: 293631NA