Mutation details:

Protein level identifier (n.a.):

p.Arg102Pro

cDNA level identifier (n.a.):

c.305G>C

Gene level identifier:

g.27923G>C

Reference, alternative allele:

C, G

Genomic location hg(19)

7:94257599

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:

1 heterozygous (1 in total).