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  Search Results: 4 unique variants retrieved



  c.6637T>C
p.(Ser2213Pro) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 24
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 | Missense ) of mutation at Exon 24

Individual Case Information : Show


  c.6638C>G
p.(Ser2213Cys) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TGC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6638C>T
p.(Ser2213Phe) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TTC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.6638C>A
p.(Ser2213Tyr) (Legacy AA No.2194)
Variant Type:
Point
Domain:
C2
Sequence Context:
TCC > TAC
Variant Effect:
Missense
Location:
Exon 24
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