Data Display Options:

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

  Search Results: 1 unique variant retrieved.



  c.5996C>T
p.(Pro1999Leu) (Legacy AA No.1980)
Variant Type:
Point
Domain:
A3
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 18
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