Search Results: 1 unique variant retrieved.
c.6092C>T
p.(Thr2031Ile) (Legacy AA No.2012)
Variant Type:
Point
Domain:
A3
Sequence Context:
ACA > ATA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show