Data Display Options:

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

  Search Results: 1 unique variant retrieved.



  c.80G>A
p.(Gly27Asp) (Legacy AA No.8)
Variant Type:
Point
Domain:
A1
Sequence Context:
GGT > GAT
Variant Effect:
Missense
Location:
Exon 1
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