Search Results: 2 unique variants retrieved
c.5372T>C
p.(Met1791Thr) (Legacy AA No.1772)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.5373G>A
p.(Met1791Ile) (Legacy AA No.1772)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
Show