Protein level identifier (n.a.):
p.Leu236Pro
cDNA level identifier (n.a.):
c.707T>C
Gene level identifier:
g.3982T>C
Reference, alternative allele:
A, G
Genomic location hg(0)
11:2189126 (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:
8 homozygous (8 in total).