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  Search Results: 2 unique variants retrieved



  c.1241A>G
p.(Tyr414Cys) (Legacy AA No.395)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1242_1250delTGCTCCCTT
p.(Tyr414*) (Legacy AA No.395)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
>
Variant Effect:
Nonsense
Location:
Exon 8
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 (Deletion | Nonsense) of mutation at Exon 8

Individual Case Information : Show