Mutation details:

Protein level identifier (NP_982271):

p.Ala860Glyfs*5

cDNA level identifier (NM_203446):

c.2579-2A>G

Gene level identifier:

g.70929T>C

Reference, alternative allele:

T, C

Genomic location hg(0)

21:34029432 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

splice site

Pathogenicity scoring:

Probably pathogenic

CADD score:

34

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

2 compound heterozygous (2 in total).