Mutation details:

Protein level identifier (n.a.):

Asp96Asn

cDNA level identifier (n.a.):

c.286G>A

Gene level identifier:

g.27904G>A

Reference, alternative allele:

C, T

Genomic location hg(19)

7:94257618

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).