Mutation details:

Protein level identifier (n.a.):

p.His60Pro

cDNA level identifier (n.a.):

c.179A>C

Gene level identifier:

g.26438A>C

Reference, alternative allele:

T, G

Genomic location hg(19)

7:94259084

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).