Protein level identifier (NP_000152):
p.Asn118Thrfs*13
cDNA level identifier (NM_000161):
c.353delA
Gene level identifier:
g.37426delA
Reference, alternative allele:
GT, G
Genomic location hg(0)
14:55332144 (not available on ExAC)
Gene name:
Consequence:
unknown effect
Pathogenicity scoring:
Probably pathogenic
CADD score:
16
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous, 1 compound heterozygous (4 in total).