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  Search Results: 4 unique variants retrieved



  c.1903+2T>G
(Legacy AA No.616)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 12
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 12

Individual Case Information : Show


  c.1903+1delGT
(Legacy AA No.616)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Exon 12
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 | Splice) of mutation at Exon 12

Individual Case Information : Show


  c.1904-2A>G
(Legacy AA No.616)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 12
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 12

Individual Case Information : Show


  c.1904G>A
p.(Ser635Asn) (Legacy AA No.616)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > AAC
Variant Effect:
Missense
Location:
Exon 13
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