Mutation details:

Protein level identifier (NP_982271):

p.Trp171*

cDNA level identifier (NM_203446):

c.512G>A

Gene level identifier:

g.28128G>A

Archive identifier/Other designation:

p.Trp171*

Reference, alternative allele:

C, T

Genomic location hg(0)

21:34072232 (not available on ExAC)

Gene name:

SYNJ1

Consequence:

nonsense

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).