Mutation details:

Protein level identifier (n.a.):

p.Pro214Serfs*3

cDNA level identifier (n.a.):

c.639dupT

Gene level identifier:

g.37429dupT

Reference, alternative allele:

A, AA

Genomic location hg(19)

7:94248093

Gene name:

SGCE

Consequence:

frameshift insertion

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).