Mutation details:

Protein level identifier (NP_982271):

p.Pro1282Leu

cDNA level identifier (NM_203446):

c.3845C>A

Gene level identifier:

g.88955C>A

Reference, alternative allele:

G, T

Genomic location hg(0)

21:34011405 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

24

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).