Mutation details:

Protein level identifier (NP_982271):

p.Arg459Pro

cDNA level identifier (NM_203446):

c.1376G>C

Gene level identifier:

g.46460G>C

Archive identifier/Other designation:

c.1376C>G

Reference, alternative allele:

C, G

Genomic location hg(0)

21:34053900 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

30

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).

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