Search Results: 1 unique variant retrieved.
c.6158A>T
p.(Asp2053Val) (Legacy AA No.2034)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 20
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show