Search Results: 2 unique variants retrieved
c.5573C>G
p.(Ser1858Cys) (Legacy AA No.1839)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCT > TGT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.5573C>T
p.(Ser1858Phe) (Legacy AA No.1839)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCT > TTT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show