Data Display Options:

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

  Search Results: 2 unique variants retrieved



  c.2044G>T
p.(Val682Phe) (Legacy AA No.663)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > TTC
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
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.2045T>C
p.(Val682Ala) (Legacy AA No.663)
Variant Type:
Point
Domain:
A2
Sequence Context:
GTC > GCC
Variant Effect:
Missense
Location:
Exon 13
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