Mutation details:

Protein level identifier (n.a.):

p.Leu175_Ser177delinsSerAlaCys

cDNA level identifier (n.a.):

c.524_529delTGGCCAinsCGGCCT

Gene level identifier:

g.37314_37319delTGGCCAinsCGGCCT

Reference, alternative allele:

TGGCCA, AGGCCG

Genomic location hg(19)

7:94248203

Gene name:

SGCE

Consequence:

in frame indel

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).