Protein level identifier (NP_000152):

p.Met211Valfs*38

cDNA level identifier (NM_000161):

c.631_632delAT

Gene level identifier:

g.58714_58715delAT

Reference, alternative allele:

CAT, C

Genomic location hg(0)

14:55310855 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Definitely pathogenic

CADD score:

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

10 heterozygous, 2 compound heterozygous (12 in total).