Search Results: 2 unique variants retrieved
c.1654T>C
p.(Tyr552His) (Legacy AA No.533)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > CAC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1656C>A
p.(Tyr552*) (Legacy AA No.533)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11
Individual Case Information :
Show