Mutation details:

Protein level identifier (n.a.):

p.Val282Cysfs*7

cDNA level identifier (n.a.):

c.842delA

Gene level identifier:

g.55369delA

Reference, alternative allele:

TT, T

Genomic location hg(19)

7:94230152

Gene name:

SGCE

Consequence:

frameshift deletion

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).