Mutation details:

Protein level identifier (n.a.):

p.Ser249Metfs*2

cDNA level identifier (n.a.):

c.742_745dupTGTA

Gene level identifier:

g.52837_52840dupTGTA

Reference, alternative allele:

C, CTACA

Genomic location hg(19)

7:94232681

Gene name:

SGCE

Consequence:

frameshift insertion

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).