Mutation details:

Protein level identifier (NP_982271):

p.Lys1321Glu

cDNA level identifier (NM_203446):

c.4126A>G

Gene level identifier:

g.96318T>G

Reference, alternative allele:

A, C

Genomic location hg(0)

21:34004042 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

23

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).