Mutation details:

Protein level identifier (n.a.):

p.Arg237*

cDNA level identifier (n.a.):

c.709C>T

Gene level identifier:

g.52804C>T

Reference, alternative allele:

G, A

Genomic location hg(19)

7:94232718

Gene name:

SGCE

Consequence:

nonsense

Pathogenicity scoring:

Probably pathogenic

CADD score:

not available

Phosphorylation activity:

Positive functional evidence:

not available

Number of all included cases:

7 heterozygous (7 in total).