Mutation details:

Protein level identifier:

p.Arg258Gln

cDNA level identifier:

c.773G>A

Genome level identifier:

g.32944G>A

Archive identifier/Other designation:

p.Arg258Gln

Reference, alternative allele:

C, T

Genetic location (hg19):

chr21:34067416

Gene name:

SYNJ1

Consequence:

missense

Pathogenicity scoring:

definitely pathogenic

CADD score:

34

Positive functional evidence:

28231468

Number of all included cases:

6 homozygous, 2 compound heterozygous (8 in total).

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