Search Results: 2 unique variants retrieved
c.2087C>A
p.(Thr696Asn) (Legacy AA No.677)
Variant Type:
Point
Domain:
A2
Sequence Context:
ACT > AAT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show
c.2087C>T
p.(Thr696Ile) (Legacy AA No.677)
Variant Type:
Point
Domain:
A2
Sequence Context:
ACT > ATT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
10
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show