Protein level identifier (n.a.):
p.Leu99Trpfs*15
cDNA level identifier (n.a.):
c.291delC
Gene level identifier:
g.2114delC
Reference, alternative allele:
GG, G
Genomic location hg(0)
11:2190993 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
1 compound heterozygous (1 in total).