Search Results: 3 unique variants retrieved
c.337C>T
p.(His113Tyr) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > TAT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.338A>G
p.(His113Arg) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.339T>A
p.(His113Gln) (Legacy AA No.94)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAT > CAA
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show