Protein level identifier (n.a.):
p.Pro249Leu
cDNA level identifier (n.a.):
c.746C>T
Gene level identifier:
g.4401C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
11:2188707 (not available on ExAC)
Gene name:
Consequence:
missense
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 homozygous (1 in total).