Data Display Options:

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

  Search Results: 3 unique variants retrieved



  c.1033G>C
p.(Val345Leu) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > CTA
Variant Effect:
Missense
Location:
Exon 8
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


  c.1033G>T
p.(Val345Leu) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > TTA
Variant Effect:
Missense
Location:
Exon 8
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.1034T>C
p.(Val345Ala) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GCA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show