Protein level identifier (n.a.):

p.Lys251*

cDNA level identifier (n.a.):

c.751A>T

Gene level identifier:

g.4143A>T

Reference, alternative allele:

A, T

Genomic location hg(0)

2:73118631 (not available on ExAC)

Gene name:

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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