Mutation details:

Protein level identifier (n.a.):

p.Gly227Val

cDNA level identifier (n.a.):

c.680G>T

Gene level identifier:

g.52775G>T

Reference, alternative allele:

C, A

Genomic location hg(19)

7:94232747

Gene name:

SGCE

Consequence:

missense

Pathogenicity scoring:

Possibly pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

1 heterozygous (1 in total).