Mutation details:

Protein level identifier (NP_982271):

p.Arg839Cys

cDNA level identifier (NM_203446):

c.2515C>T

Gene level identifier:

g.70271C>T

Reference, alternative allele:

G, A

Genomic location hg(0)

21:34030089 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

32

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 homozygous (1 in total).