Data Display Options:

UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :

  Search Results: 2 unique variants retrieved



  c.728C>G
p.(Ser243Cys) (Legacy AA No.224)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCT > TGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.729delT
p.(Ser243Serfs*15) (Legacy AA No.224)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6

Individual Case Information : Show