Search Results: 2 unique variants retrieved
c.5150A>G
p.(Tyr1717Cys) (Legacy AA No.1698)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Individual Case Information :
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c.5151T>G
p.(Tyr1717*) (Legacy AA No.1698)
Variant Type:
Point
Domain:
B
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 14
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 14
Individual Case Information :
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