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:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous, 1 compound heterozygous (4 in total).