Mutation details:

Protein level identifier (NP_982271):

p.Leu1406Phefs*42

cDNA level identifier (NM_203446):

c.4217_4218insC

Gene level identifier:

g.96433_96434insC

Reference, alternative allele:

C, CG

Genomic location hg(0)

21:34003926 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

frameshift

Pathogenicity scoring:

Probably pathogenic

CADD score:

33

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).