Data Display Options:

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

  Search Results: 3 unique variants retrieved



  c.2098T>C
p.(Ser700Pro) (Legacy AA No.681)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCG > CCG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.2099C>A
p.(Ser700*) (Legacy AA No.681)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCG > TAG
Variant Effect:
Nonsense
Location:
Exon 13
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 13

Individual Case Information : Show


  c.2099C>T
p.(Ser700Leu ) (Legacy AA No.681)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 13
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 13

Individual Case Information : Show