Mutation details:

Protein level identifier (n.a.):

p.Leu34Ser

cDNA level identifier (n.a.):

c.101T>C

Gene level identifier:

g.212T>C

Reference, alternative allele:

A, G

Genomic location hg(19)

7:94285310

Gene name:

SGCE

Consequence:

missense

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).