Mutation details:

Protein level identifier (NP_982271):

p.Tyr832Cys

cDNA level identifier (NM_203446):

c.2495A>G

Gene level identifier:

g.70251A>G

Reference, alternative allele:

T, C

Genomic location hg(0)

21:34030109 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

Probably pathogenic

CADD score:

36

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 homozygous (2 in total).