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  Search Results: 4 unique variants retrieved



  c.1630G>A
p.(Asp544Asn) (Legacy AA No.525)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > AAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1630_1633delGATC
p.(Asp544Leufs*4) (Legacy AA No.525)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
4
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 11

Individual Case Information : Show


  c.1631delAT
p.(Asp544Alafs*10) (Legacy AA No.525)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
2
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 11

Individual Case Information : Show


  c.1632T>A
p.(Asp544Glu) (Legacy AA No.525)
Variant Type:
Point
Domain:
A2
Sequence Context:
GAT > GAA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show