Search Results: 2 unique variants retrieved
c.1237G>C
p.(Asp413His) (Legacy AA No.394)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > CAC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.1237G>T
p.(Asp413Tyr) (Legacy AA No.394)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAC > TAC
Variant Effect:
Missense
Location:
Exon 8
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show