Search Results: 1 unique variant retrieved.
c.6568T>G
p.(Leu2190Val) (Legacy AA No.2171)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTA > GTA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show