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  Search Results: 4 unique variants retrieved



  c.6574A>C
p.(Ser2192Arg) (Legacy AA No.2173)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGT > CGT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6574+3_6574+6delAAGT
(Legacy AA No.2173)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 23
No of bases:
4
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Splice) of mutation at Intron 23

Individual Case Information : Show


  c.6575-262_6724-192del71
(Legacy AA No.2173)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 24
No of bases:
71
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 Intron 24

Individual Case Information : Show


  c.6575G>T
p.(Ser2192Ile) (Legacy AA No.2173)
Variant Type:
Point
Domain:
C2
Sequence Context:
AGT > ATT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show