Mutation details:

Protein level identifier (n.a.):

p.Gln245Argfs*10

cDNA level identifier (n.a.):

c.734_737delAATT

Gene level identifier:

g.52829_52832delAATT

Reference, alternative allele:

CAATT, C

Genomic location hg(19)

7:94232689

Gene name:

SGCE

Consequence:

frameshift deletion

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

3 heterozygous (3 in total).