Search Results: 2 unique variants retrieved
c.5813A>G
p.(His1938Arg) (Legacy AA No.1919)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.5813A>T
p.(His1938Leu) (Legacy AA No.1919)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CTT
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show