Data Display Options:

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

  Search Results: 1 unique variant retrieved.



  c.5345T>G
p.(Ile1782Arg) (Legacy AA No.1763)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATA > AGA
Variant Effect:
Missense
Location:
Exon 15
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