Mutation details:

Protein level identifier (n.a.):

p.Cys258*

cDNA level identifier (n.a.):

c.771_772delAT

Gene level identifier:

g.52866_52867delAT

Reference, alternative allele:

CAT, C

Genomic location hg(19)

7:94232654

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:

3 heterozygous (3 in total).

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