Search Results: 1 unique variant retrieved.
c.863T>C
p.(Ile288Thr) (Legacy AA No.269)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATA > ACA
Variant Effect:
Missense
Location:
Exon 7
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show