Protein level identifier (n.a.):

p.Val57del

cDNA level identifier (n.a.):

c.169_171delGTG

Gene level identifier:

g.3849_3851delGTG

Reference, alternative allele:

GGTG, G

Genomic location hg(0)

11:112100935 (not available on ExAC)

Gene name:

Consequence:

unknown effect

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

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