Search Results: 1 unique variant retrieved.
c.1706C>G
p.(Pro569Arg) (Legacy AA No.550)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show