Mutation details:

Protein level identifier (n.a.):

p.Phe183Leufs*4

cDNA level identifier (n.a.):

c.549_552delTCTT

Gene level identifier:

g.37339_37342delTCTT

Reference, alternative allele:

CAAGA, C

Genomic location hg(19)

7:94248179

Gene name:

SGCE

Consequence:

frameshift deletion

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).