Search Results: 1 unique variant retrieved.
c.6539C>A
p.(Thr2180Asn) (Legacy AA No.2161)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACT > AAT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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