Data Display Options:

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

  Search Results: 3 unique variants retrieved



  c.6745C>T
p.(Leu2249Leu) (Legacy AA No.2230)
Variant Type:
Polymorphism
Domain:
C2
Sequence Context:
CTG > TTG
Variant Effect:
Synonymous
Location:
Exon 25
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Polymorphism | Synonymous) of mutation at Exon 25

Individual Case Information : Show


  c.6746T>G
p.(Leu2249Arg) (Legacy AA No.2230)
Variant Type:
Point
Domain:
C2
Sequence Context:
CTG > CGG
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
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


  c.6746T>C
p.(Leu2249Pro) (Legacy AA No.2230)
Variant Type:
Point
Domain:
C2
Sequence Context:
Variant Effect:
Missense
Location:
Exon 25
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 25

Individual Case Information : Show