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  Search Results: 3 unique variants retrieved



  c.6856_6866delGATGGCCATCA
p.(Asp2286Valfsext*95) (Legacy AA No.2267)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
No of bases:
11
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 25

Individual Case Information : Show


  c.6857A>G
p.(Asp2286Gly) (Legacy AA No.2267)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAT > GGT
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6857A>T
p.(Asp2286Val) (Legacy AA No.2267)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAT > GTT
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show