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  Search Results: 4 unique variants retrieved



  c.6274-8A>G
(Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 21
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 (Point | Splice) of mutation at Intron 21

Individual Case Information : Show


  c.6274G>A
p.(Val2092Met) (Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6274-8A>G
(Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splicing
Location:
Intron 22
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 (Point | Splicing ) of mutation at Intron 22

Individual Case Information : Show


  c.6275T>G
p.(Val2092Gly) (Legacy AA No.2073)
Variant Type:
Point
Domain:
C1
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 22
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